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Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results

Alberto Palladino ¹, Andrea A. Papa ², Salvatore Morra ¹, Vincenzo Russo ², Manuela Ergoli ¹, Anna Rago ², Chiara Orsini ¹, Gerardo Nigro ² and Luisa Politano ¹

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies

Paola D’Ambrosio ¹, Roberta Petillo ¹, Annalaura Torella ², Andrea Antonio Papa ³, Alberto Palladino ¹, Chiara Orsini ¹, Manuela Ergoli ¹, Luigia Passamano ¹, Antonio Novelli ⁴, Vincenzo Nigro ² and Luisa Politano ¹

Issue presentation

Vincenzo Nigro, Luisa Politano

Giovanni Nigro

Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs

Lorenza Magliano ¹, Marianna Scutifero ², Melania Patalano1, Alessandra Sagliocchi ¹, Antonella Zaccaro ¹, Federica Civati ³, Erika Brighina ³, Gianluca Vita ⁴, Sonia Messina ⁴, Maria Sframeli ⁴, Maria Elena Lombardo ⁵, Roberta Scalise ⁵, Giulia Colia ⁶, Maria Catteruccia ⁶, Angela Berardinelli ⁷, Maria Chiara Motta ⁷, Alessandra Gaiani ⁸, Claudio Semplicini ⁸, Luca Bello ⁸, Guja Astrea ⁹, Giulia Ricci ⁹, Maria Grazia D’Angelo ³, Giuseppe Vita ⁴, Marika Pane ⁵, Adele D’Amico ⁶, Umberto Balottin ⁷, Corrado Angelini ⁸, Roberta Battini ⁹ and Luisa Politano ²

Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1

Marianna Scutifero ¹, Michele Lanza ², Roberta Petillo ¹, Maddalena De Bernardo ³, Luigia Passamano ¹, Nicola Rosa ³, Luisa Politano ¹
DOI 10.36185/2532-1900-075

Acta Myologica Online

Vincenzo Nigro

Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study

Mashael Alfarih ^{1 2 3}, Petros Syrris ², Eloisa Arbustini ⁴, João B. Augusto ^{1 2}, Alun Hughes ^{2 5}, Guy Lloyd ^{1 2}, Luis R. Lopes ^{1 2}, James C. Moon ^{1 2}, Saidi Mohiddin ¹ and Gabriella Captur ^{1 2 5 6}

Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM – Italian Muscular Dystrophy Association Workshop report

Fabrizio Racca ¹, Valeria A. Sansone ², Federica Ricci ³, Massimiliano Filosto ⁴, Stefania Pedroni ⁵, Elena Mazzone ⁶, Yaroslava Longhitano ¹, Christian Zanza ¹, Anna Ardissone ⁷, Rachele Adorisio ⁸, Angela Berardinelli ⁹, Claudia Bondone ¹⁰, Chiara Briani ¹¹, Francesca Cairello ¹², Elena Carraro ⁵, Giacomo P. Comi ¹³, Grazia Crescimanno ¹⁴, Adele D’Amico ¹⁵, Fabio Deiaco ¹⁶, Alessia Fabiano ¹⁷, Francesco Franceschi ¹⁸, Michelangelo Mancuso ¹⁹, Alessandro Massè ²⁰, Sonia Messina ²¹, Tiziana Mongini ²², Isabella Moroni ⁷, Andrea Moscatelli ²³, Olimpia Musumeci ²¹, Paolo Navalesi ²⁴, Gerardo Nigro ²⁵, Carlo Origo ²⁶, Chiara Panicucci ²⁷, Marika Pane ⁶, Martino Pavone ²⁸, Marina Pedemonte ²⁹, Elena Pegoraro ¹¹, Marco Piastra ³⁰, Antonella Pini ³¹, Luisa Politano ³², Stefano Previtali ³³, Fabrizio Rao ³⁴, Giulia Ricci ¹⁹, Antonio Toscano ²¹, Andrea Wolfler ²³, Khristian Zoccola ²⁶, Cristina Sancricca ³⁵, Vincenzo Nigro ³⁶, Antonio Trabacca ³⁷, Andrea Vianello ³⁸, Claudio Bruno ^27,39
DOI 10.36185/2532-1900-081

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life

Frank Lehmann-Horn ¹, Adele D’Amico ², Enrico Bertini ², Mauro LoMonaco ³, Luciano Merlini ⁴, Kevin R. Nelson ⁵, Heike Philippi ⁶, Gabriele Siciliano ⁷, Frank Spaans ⁸ and Karin Jurkat-Rott ⁹

The role of exercise in neuromuscular diseases

Giuseppe D’Antona

Muscle manifestations and CK levels in COVID infection: results of a large cohort of patients inside a Pandemic COVID-19 Area

Anna De Rosa ^1,2, Elena Pinuccia Verrengia ¹, Ivan Merlo ^3,4, Federico Rea ^3,4, Gabriele Siciliano ², Giovanni Corrao ^3,4, Alessandro Prelle ¹
DOI 10.36185/2532-1900-040

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

Vincenzo Nigro, Marco Savarese

Differential diagnosis of vacuolar muscle biopsies: use of p62, lc3 and lamp2 immunohistochemistry

Elisa Vittonatto ¹, Silvia Boschi ^{2, 4}, Loredana Chiadò-Piat ¹, Valentina Ponzalino ¹, Sara Bortolani ¹, Chiara Brusa ³, Innocenzo Rainero ², Federica Ricci ³, Liliana Vercelli ¹ and Tiziana Mongini ¹

New graphic for Acta Myologica

Luisa Politano

Management of motor rehabilitation in individuals with muscular dystrophies. 1st Consensus Conference report from UILDM – Italian Muscular Dystrophy Association (Rome, January 25-26, 2019)

Maria Elena Lombardo ¹, Elena Carraro ², Cristina Sancricca ^1,3, Michela Armando ⁴, Michela Catteruccia ⁵, Elena Mazzone ⁶, Giulia Ricci ⁷, Ferdinando Salamino ⁸, Filippo Maria Santorelli ⁹, Massimiliano Filosto ¹⁰ on behalf of UILDM (Italian Muscular Dystrophy Association) and Italian Consensus Conference Group on motor rehabilitation in muscular dystrophy
DOI 10.36185/2532-1900-046

Myology: the passion of a lifetime

Giovanni Nigro

Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy

Corrado Angelini ¹ , Elisabetta Tasca ¹ , Anna Chiara Nascimbeni ² , Marina Fanin ²

Unmet needs on the management of COVID-19 vaccination in patients with neuromuscular disorders

Vincenzo Russo ¹, Luisa Politano ^2,3
DOI 10.36185/2532-1900-051

Luisa Politano

Increasing awareness of Myology: it’s time for its recognition as an independent discipline within the Medical Sciences

Giovanni Nigro, Luisa Politano

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase

Eleonora Mauri ^1*, Elena Abati ^1,2*, Olimpia Musumeci ³, Carmelo Rodolico ³, Maria Grazia D’Angelo ⁴, Massimiliano Mirabella ⁵, Matteo Lucchini ⁵, Luca Bello ⁶, Elena Pegoraro ⁶, Lorenzo Maggi ⁷, Letizia Manneschi ⁸, Chiara Gemelli ^9,10, Marina Grandis ^10,11, Angela Zuppa ^10,11, Sara Massucco ^10,11, Luana Benedetti ^10,11, Claudia Caponnetto ^10,11, Angelo Schenone ^10,11, Alessandro Prelle ¹², Stefano C. Previtali ¹³, Marina Scarlato ¹³, Adele D’Amico ¹⁴, Enrico Bertini ¹⁴, Elena M. Pennisi ¹⁵, Laura De Giglio ¹⁵, Marika Pane ¹⁶, Eugenio Mercuri ¹⁶, Tiziana Mongini ¹⁷, Federica Ricci ¹⁷, Angela Berardinelli ¹⁸, Guja Astrea ¹⁹, Sara Lenzi ¹⁹, Roberta Battini ^19,20, Giulia Ricci ²⁰, Francesca Torri ²⁰, Gabriele Siciliano ²⁰, Filippo M. Santorelli ²¹, Alessandra Ariatti ²², Massimiliano Filosto ²³, Luigia Passamano ²⁴, Luisa Politano ²⁴, Marianna Scutifero ²⁴, Paola Tonin ²⁵, Barbara Fossati ²⁶, Chiara Panicucci ²⁷, Claudio Bruno ²⁷, Sabrina Ravaglia ²⁸, Mauro Monforte ²⁹, Giorgio Tasca ²⁹, Enzo Ricci ²⁹, Antonio Petrucci ³⁰, Lucio Santoro ³¹, Lucia Ruggiero ³¹, Andrea Barp ³², Emilio Albamonte ³², Valeria Sansone ³², Delia Gagliardi ², Gianluca Costamagna ², Alessandra Govoni ^1,20, Francesca Magri ¹, Roberta Brusa ¹, Daniele Velardo ³⁴, Megi Meneri ¹, Monica Sciacco ³⁴, Stefania Corti ^1,2, Nereo Bresolin ^1,2, Isabella Moroni ³⁴, Sonia Messina ³, Antonio Di Muzio ³⁵, Vincenzo Nigro ³⁶, Rocco Liguori ³⁷, Giovanni Antonini ³⁸, Antonio Toscano ³, Carlo Minetti ³⁹, Giacomo Pietro Comi ^2,33, Italian Association of Myology
DOI 10.36185/2532-1900-008

Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy

Joana Ribeiro ¹, Olinda Rebelo ¹, Ana Fernández-Marmiesse ² and Luís Negrão ¹

AUTOMA: a wearable device to assess the upper limb muscular activity in patients with neuromuscular disorders

Mario Milazzo ^{1 *}, Andrea Spezzaneve ^{1 *}, Guja Astrea ², Francesca Giorgolo ³, Alessandro Tonacci ⁴, Francesco Sansone ⁴, Marco Calderisi ³, the Ingene Group, Raffaele Conte ⁴, Filippo M. Santorelli ², Stefano Roccella ¹
DOI 10.36185/2532-1900-057

Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single center

Marco Mazzoli ¹, Alessandra Ariatti ¹, Gian Carlo Garuti ², Virginia Agnoletto ³, Maurilio Genovese ⁴, Manuela Gozzi ⁵, Shaniko Kaleci ⁶, Alessandro Marchioni ⁷, Marcella Malagoli ⁴, Giuliana Galassi ¹
DOI 10.36185/2532-1900-015

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis

Chunxiang Fan ^1*, Marius Kuhn ^2*, Alexander Pepler MBiol ³, James Groome ⁴, Vern Winston ⁴, Saskia Biskup ³, Frank Lehmann-Horn ^1** and Karin Jurkat-Rott ¹

Ambulatory Duchenne muscular dystrophy children: cross-sectional correlation between function, quantitative muscle ultrasound and MRI

Hala Abdulhady ¹, Hossam M. Sakr ², Nermine S. Elsayed ⁴, Tamer A. El-Sobky ⁴, Nagia Fahmy ⁵, Amr M. Saadawy ², Heba Elsedfy ³
DOI 10.36185/2532-1900-063

Preface

The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence

Giovanni Iolascon ¹, Michele Vitacca ², Elena Carraro ³, Carmelo Chisari ⁴, Pietro Fiore ⁵, Sonia Messina ⁶, Tiziana Enrica Giovanna Mongini ⁷, Valeria A. Sansone ⁸, Antonio Toscano ⁹ and Gabriele Siciliano ¹⁰, on behalf of AIM (Italian Association of Myology), AIPO (Italian Association of Hospital Pulmonologists), SIRN (Italian Society of Neurorehabilitation), and SIMFER (Italian Society of Physical Medicine and Rehabilitation)

It’s time to measure disability in spinal muscular atrophy

Antonio Trabacca, Camilla Ferrante, Marta De Rinaldis
DOI 10.36185/2532-1900-070

Gabriele Siciliano, Filippo Maria Santorelli, Roberta Battini

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy

Luca Bello, Elena Pegoraro

Novel TRIM32 mutation in sarcotubular myopathy

Chiara Panicucci ^*1, Monica Traverso ^*1, Serena Baratto ², Chiara Romeo ³, Michele Iacomino ³, Chiara Gemelli ⁴, Alberto Tagliafico ⁵, Paolo Broda ¹, Federico Zara ³, Claudio Bruno ², Carlo Minetti ¹ and Chiara Fiorillo ¹

Subacute inflammatory myopathy associated with papillary cancer of the thyroid gland

Ana Inês Martins ¹, Adriana Lages ², Olinda Rebelo ³ and Luís Negrão ¹

25th Anniversary of the Founding of the World Muscle Society (1995-2020). The Contribution of Prof. Giovanni Nigro (1931-2017)

Luciano Merlini

23Na MRI and myometry to compare eplerenone vs. glucocorticoid treatment in Duchenne dystrophy

Philip A. Glemser ^1,2, Heike Jaeger ³, Armin M. Nagel ^4,5, Andreas E. Ziegler ⁶, David Simons ¹, Heinz-Peter Schlemmer ¹, Frank Lehmann-Horn ³, Karin Jurkat-Rott ⁷ and Marc-André Weber ⁸

Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course

Carolina Croci ¹, Monica Traverso ², Serena Baratto ², Michele Iacomino ³, Marina Pedemonte ², Francesco Caroli ³, Marcello Scala ¹, Claudio Bruno ⁴, Chiara Fiorillo ^1,2
DOI 10.36185/2532-1900-076

17° Congresso Nazionale AIM

16° Congresso Nazionale AIM

Gabriele Siciliano

Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia

Stojan Peric ^{1 *}, Jelena Stevanovic ^{1 *}, Katherine Johnson ², Ana Kosac ³, Marina Peric ⁴, Marija Brankovic ¹, Ana Marjanovic ¹, Milena Jankovic ¹, Bojan Banko ⁵, Sanja Milenkovic ⁶, Milica Durdic ⁵, Ivo Bozovic ¹, Jelena Nikodinovic Glumac ³, Dragana Lavrnic ², Ruzica Maksimovic ⁵, Vedrana Milic-Rasic ³ and Vidosava Rakocevic-Stojanovic ¹

Is paravertebral muscles edema a consequence of neurogenic changes in MuSK-positive myasthenia gravis?

Sergey N. Bardakov ¹, Vadim A. Tsargush ¹, Pierre G. Carlier ², Tran Minh Duc ¹, Andrey Yu. Emelin ¹, Alexey Yu. Polushin ³, Alexander A. Emelyantsev ¹, Andrey N. Belskikh ¹, Ekaterina N. Berezhnaya ⁴, Sergey V. Lapin ³, Anna N. Moshnikova ³, Roman V. Deev ^4-6
DOI 10.36185/2532-1900-082

Arrhythmogenic right ventricular cardiomyopathy in Boxer dogs: the diagnosis as a link to the human disease

Annina S. Vischer ^1,2, David J. Connolly ³, Caroline J. Coats ¹, Virginia Luis Fuentes ³, William J. McKenna ⁴, Silvia Castelletti1 ^1,5 and Antonios A. Pantazis ^1,6

Physiological aspects of muscular adaptations to training translated to neuromuscular diseases

Angela Berardinelli ¹ and Giuseppe D’Antona ^{2 3}

Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM – Italian Muscular Dystrophy Association (Milan, January 25-26, 2019)

Fabrizio Rao ¹, Giancarlo Garuti ², Michele Vitacca ³, Paolo Banfi ⁴, Fabrizio Racca ⁵, Renato Cutrera ⁶, Martino Pavone ⁷, Marina Pedemonte ⁸, Matteo Schisano ⁹, Stefania Pedroni ¹⁰, Jacopo Casiraghi ¹⁰, Andrea Vianello ¹¹, Valeria A Sansone ¹⁰ on behalf of UILDM Respiratory group
DOI 10.36185/2532-1900-045

[This article has been retracted] Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up

Amir Dori (1), Michela Guglieri (2), Marianna Scutifero (3), Luigia Passamano (3), Antonio Trabacca (4), Luisa Politano (3,5)
DOI 10.36185/2532-1900-058

Evaluation of neural damage in Duchenne muscular dystrophy patients

Ekram Abdel Salam ¹ , Iman Ehsan Abdel-Meguid ¹ , Rania Shatla ² , Soheir Korraa ³

Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results

Manuela Ergoli ^1*, Massimo Venditti ^{1 2 *}, Raffaele Dotolo ^2* Esther Picillo ¹, Sergio Minucci ² and Luisa Politano ¹

Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey

David C. Schorling ¹, Cornelia K. Müller ¹, Astrid Pechmann ¹, Sabine Borell ¹, Thorsten Langer ¹, Simone Thiele ², Maggie C. Walter ², Barbara Zieger ³, Janbernd Kirschner ^1,4
DOI 10.36185/2532-1900-001

Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome

Larysa Sivitskaya ¹, Nina Danilenko ¹, Iryna Motuk ², Nikolai Zhelev ^3,4
DOI 10.36185/2532-1900-047

Mitochondrial disease heterogeneity: a prognostic challenge

Maurizio Moggio ¹ , Irene Colombo ¹ , Lorenzo Peverelli ¹ , Luisa Villa ¹ , Rubjona Xhani ¹ , Silvia Testolin ¹ , Salvatore Di Mauro ² , Monica Sciacco ¹

The effect of atrial preference pacing on atrial fibrillation electrophysiological substrate in Myotonic Dystrophy type 1 population

Vincenzo Russo ¹ , Gerardo Nigro ¹ , Federica Di Meo ¹ , Andrea Antonio Papa ¹ , Nadia Della Cioppa ¹ , Riccardo Proietti ² , Maria Giovanna Russo ¹ , Raffaele Calabrò ¹ , Luisa Politano ³

Reproducibility of manual segmentation in muscle imaging

Shaun Ivan Muzic ^1*, Matteo Paoletti ^2*, Francesca Solazzo ¹, Eugenio Belatti ¹, Raimondo Vitale ¹, Niels Bergsland ^3,4, Stefano Bastianello ^1,2 Anna Pichiecchio ^1,2
DOI 10.36185/2532-1900-052

SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family

Luciano Almendra ¹, Francisco Laranjeira ² , Ana Fernández-Marmiesse ³, Luís Negrão ¹

Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages

Gabriele Siciliano ¹ , Costanza Simoncini ¹ , Stefano Giannotti ² , Virna Zampa ³ , Corrado Angelini ¹⁴ , Giulia Ricci ¹

Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis

Francesca Magri ¹, Roberta Brusa ¹, Luca Bello ³, Lorenzo Peverelli ⁴, Roberto Del Bo ¹, Alessandra Govoni ¹, Claudia Cinnante ⁵, Irene Colombo ⁴, Francesco Fortunato ¹, Roberto Tironi ⁴, Stefania Corti ^1,2, Nadia Grimoldi ⁶, Monica Sciacco ⁴, Nereo Bresolin ¹, Elena Pegoraro ³, Maurizio Moggio ⁴, Giacomo Pietro Comi ^2,4
DOI 10.36185/2532-1900-009

Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene

Gilbert Wunderlich ¹, Anna Brunn ², Hülya-Sevcan Daimagüler ^3,4, Tarik Bozoglu ^3,4, Gereon R. Fink ^1,5, Helmar C. Lehmann ¹, Joachim Weis ⁶ and Sebahattin Cirak ^3,4

Muscle MRI in muscular dystrophies

Jordi Díaz-Manera ^1,2 , Jaume Llauger ³ , Eduard Gallardo ^1,2 , Isabel Illa ^1,2

Respiratory function and therapeutic expectations in DMD: families experience and perspective

Claudia Brogna ^1,2, Simona Lucibello ^1,2, Giorgia Coratti ^1,2, Gianluca Vita ³, Valeria A. Sansone ⁴, Sonia Messina3 ^3,5, Emilio Albamonte ⁴, Francesca Salmin ⁴, Gloria Ferrantini ^1,2, Elisa Pede ^1,2, Chiara Consulo ³, Lavinia Fanelli ², Nicola Forcina ², Giulia Norcia ², Marika Pane ^1,2, Eugenio Mercuri ^1,2
DOI 10.36185/2532-1900-016

Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of Italian patients with spinal-bulbar muscular atrophy

Francesco Francini-Pesenti ¹, Giorgia Querin ², Cristina Martini ¹, Sara Mareso ¹ and David Sacerdoti ¹

Cardiac disorders worsen the final outcome in myasthenic crisis undergoing non-invasive mechanical ventilation: a retrospective 20-year study from a single center

Erika Iori ¹, Alessandra Ariatti ¹, Marco Mazzoli ¹, Elisabetta Bastia ², Manuela Gozzi ³, Virginia Agnoletto ², Alessandro Marchioni ⁴, Giuliana Galassi ¹
DOI 10.36185/2532-1900-064

Eplerenone repolarizes muscle membrane through Na,K-ATPase activation by Tyr10 dephosphorylation

Simon Breitenbach ¹, Frank Lehmann-Horn ¹, Karin Jurkat-Rott ²

Metabolic impairments in patients with myotonic dystrophy type 2

Milorad Vujnic ¹, Stojan Peric ², Zeljka Calic ³, Natasa Benovic ², Tanja Nisic ⁴, Jovan Pesovic ⁵, Dusanka Savic-Pavicevic ⁵ and Vidosava Rakocevic-Stojanovic ²

The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2

Nitya Yerabandi ¹, Valentina L. Kouznetsova ^2,3, Santosh Kesari ⁴, Igor F. Tsigelny ^2-6
DOI 10.36185/2532-1900-071

Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms

Alberto Palladino ¹, Paola D’Ambrosio ¹, Andrea Antonio Papa ^1,2, Roberta Petillo ¹, Chiara Orsini ¹, Marianna Scutifero ¹, Gerardo Nigro ², Luisa Politano ¹

An unusual presentation of scleromyxedema as inflammatory myopathy

Kavadisseril Vivekanandan Vysakha ¹, Rajalakshmi Poyuran ², Sruthi S Nair ¹ and Muralidharan Nair ¹

Clinicopathologic features in a case of intermuscular myopericitoma of thigh

Renata Hodzic ¹, Mirsad Hodzic ², Nermina Piric ¹ and Zinaida Karasalihovic ³

Giovanni Nigro A note of remembrance

Lefkos T Middleton, MD, FRCP

Personality traits in patients with myotonic dystrophy type 2

Teodora Paunic ¹, Stojan Peric ², Aleksandra Parojcic ², Dusanka Savic-Pavicevic ³, Milorad Vujnic ⁴, Jovan Pesovic ³, Ivana Basta ², Dragana Lavrnic ² and Vidosava Rakocevic-Stojanovic ²

Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam

Michele Tosi ^1,2, Michela Catteruccia ¹, Claudio Cherchi ³, Irene Mizzoni ^1,2, Adele D’Amico ¹
DOI 10.36185/2532-1900-077

News from around the world

List of forthcoming meetings 2016-2020

Current and emerging therapies in Becker muscular dystrophy (BMD)

Corrado Angelini, Roberta Marozzo and Valentina Pegoraro

Neuromuscular disorders and transition from pediatric to adult care in a multidisciplinary perspective: a narrative review of the scientific evidence and current debate

Giuseppe Accogli, Camilla Ferrante, Isabella Fanizza, Maria Carmela Oliva, Ivana Gallo, Marta De Rinaldis, Antonio Trabacca
DOI 10.36185/2532-1900-083

Multi-slice MRI reveals heterogeneity in disease distribution along the length of muscle in Duchenne muscular dystrophy

Stephen M. Chrzanowski ¹, Celine Baligand ¹, Rebecca J. Willcocks ², Jasjit Deol ², Ilona Schmalfuss ³, Donovan J. Lott ², Michael J. Daniels ⁴, Claudia Senesac ², Glenn A. Walter ¹ and Krista Vandenborne ²

Exercise in neuromuscular disorders: a promising intervention

Nicoline B.M. Voet ^{1 2}

Read-through approach for stop mutations in Duchenne muscular dystrophy. An update

Luisa Politano
DOI 10.36185/2532-1900-041

Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy

Ilka Schneider ¹ , Gisela Stoltenburg ^1,2 , Marcus Deschauer ¹ , Martin Winterholler ³ , Frank Hanisch ¹

The multifaceted clinical presentation of VCP-proteinopathy in a Greek family

George K. Papadimas ¹, George P. Paraskevas ¹, Thomas Zambelis ¹, Chrisostomos Karagiaouris ¹, Mara Bourbouli ¹, Anastasia Bougea ¹, Maggie C. Walter ², Nicolas U. Schumacher ², Sabine Krause ² and Elisabeth Kapaki ¹

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family

Luana Fontana ¹, Massimo Santoro ², Maria Rosaria D’Apice ³, Francesca Peluso ⁴, Giulia Gori ³, Amelia Morrone ⁵, Giuseppe Novelli ^1,3,6, Laura Dosa ⁷, Annalisa Botta ¹
DOI 10.36185/2532-1900-002

A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype

Ricardo Santin ^1*, Igor Araujo Vieira ^2,3*, Jean Costa Nunes ^4,5, Maria Luiza Benevides ⁶, Fernanda Quadros ¹, Ana Carolina Brusius-Facchin ⁷, Gabriel Macedo ^3,8#, Ana Paula Santin Bertoni ^9#
DOI 10.36185/2532-1900-048

Far field R-wave sensing in Myotonic Dystrophy type 1: right atrial appendage versus Bachmann’s bundle region lead placement

Vincenzo Russo ¹ , Gerardo Nigro ¹ , Andrea Antonio Papa ¹ , Anna Rago ¹ , Federica Di Meo ¹ , Anna Cristiano ¹ , Antonio Molino ² , Raffaele Calabrò ¹ , Maria Giovanna Russo ¹ , Luisa Politano ³

Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study

Lorenza Magliano ¹ , Maria Grazia D’Angelo ² , Giuseppe Vita ³ , Marika Pane ⁴ , Adele D’Amico ⁵ , Umberto Balottin ⁶ , Corrado Angelini ⁷ , Roberta Battini ⁸ , Luisa Politano ⁹ ; Telethon GUP10002 Working Group: Melania Patalano ¹ , Alessandra Sagliocchi ¹ , Federica Civati ² , Erika Brighina ² , Gian Luca Vita ³ , Sonia Messina ³ , Maria Sframeli ³ , Maria Elena Lombardo ⁴ , Roberta Scalise ⁴ , Giulia Colia ⁵ , Maria Catteruccia ⁵ , Angela Berardinelli ⁶ , Maria Chiara Motta ⁶ , Alessandra Gaiani ⁷ , Claudio Semplicini ⁷ , Luca Bello ⁷ , Guja Astrea ⁸ , Antonella Zaccaro ⁹ , Marianna Scutifero ⁹

Diagnosis and treatment of pneumonia, a common cause of respiratory failure in patients with neuromuscular disorders

Novella Carannante ¹, Anna Annunziata ², Antonietta Coppola ², Francesca Simioli ², Antonella Marotta ², Mariano Bernardo ³, Eugenio Piscitelli ⁴, Pasquale Imitazione ², Giuseppe Fiorentino ²
DOI 10.36185/2532-1900-053

Usefulness of the external loop recorder in a patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations: evaluation of the follow-up from diagnosis to 6 month-post-cardiac interventional treatment

Anna Rago, Andrea Antonio Papa ^1,2, Dario Galante ², Antonio Cassese ¹ and Paolo Golino ¹

Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene

Antonella Taglia ¹ , Roberta Petillo ¹ , Paola D’Ambrosio ¹ , Esther Picillo ¹ , Annalaura Torella ² , Chiara Orsini ¹ , Manuela Ergoli ¹ , Marianna Scutifero ¹ , Luigia Passamano ¹ , Alberto Palladino ¹ , Gerardo Nigro ³ , Luisa Politano ¹

Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy – A pilot study

Teresa Kruse ^1,2, Raoul Heller ^2,3, Brunhilde Wirth ^2,3,4, Julia Glöggler ⁵, Claudia D. Wurster ⁶, Albert C. Ludolph ⁶, Bert Braumann ^1,2
DOI 10.36185/2532-1900-010

PROCEEDINGS of the XIII CONGRESS of MEDITERRANEAN SOCIETY of MYOLOGY

Imaging alterations in skeletal muscle channelopathies: a study in 15 patients

Lorenzo Maggi ¹ , Raffaella Brugnoni ¹ , Eleonora Canioni ¹ , Elio Maccagnano ² , Pia Bernasconi ¹ , Lucia Morandi ¹

Magnetic resonance imaging pattern variability in dysferlinopathy

Sergey N. Bardakov ¹, Vadim A. Tsargush ¹, Pierre G. Carlier ², Sergey S. Nikitin ³, Sergey A. Kurbatov ^4,5, Angelina A. Titova ⁶, Zoya R. Umakhanova ⁷, Patimat G. Akhmedova ⁷, Raisat M. Magomedova ⁷, Igor S. Zheleznyak ¹, Alexander A. Emelyantsev ¹, Ekaterina N. Berezhnaya ^8,9, Ivan A.Yakovlev ¹⁰, Artur A. Isaev ¹⁰, Roman V. Deev ^{9, 10}
DOI 10.36185/2532-1900-059

Endocrine myopathies: clinical and histopathological features of the major forms

Carmelo Rodolico ^*, Carmen Bonanno ^*, Alessia Pugliese, Giulia Nicocia, Salvatore Benvenga, Antonio Toscano
DOI 10.36185/2532-1900-017

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey

Uluç Yi̇ş ¹, Gülden Di̇ni̇z ², Filiz Hazan ³, Hülya Sevcan Dai̇magüler ^{4 5}, Bahar Toklu Baysal ⁶, Figen Baydan ², Gülçin Akinci ⁶, Aycan Ünalp ⁶, Gül Aktan ⁷, Erhan Bayram ¹, Semra Hiz ¹, Cem Paketçi̇ ¹, Derya Okur ¹, Erdener Özer ⁸, Ayça Ersen Danyeli̇ ⁸, Muzaffer Polat ⁹, Gökhan Uyanik ^{10 11} and Sebahattin Çirak ^{4 5}

Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still “invisible”?

Giulia Ricci ¹, Francesca Torri ¹, Francesca Bianchi ¹, Lorenzo Fontanelli ¹, Erika Schirinzi ¹, Elisa Gualdani ², Paolo Francesconi ², Delia Gagliardi ³, Gigliola Serra ⁴, Tiziana Mongini ⁵, Gabriele Siciliano ¹
DOI 10.36185/2532-1900-065

Learning disabilities in neuromuscular disorders: a springboard for adult life

Guja Astrea ¹, Roberta Battini ¹, Sara Lenzi1 ¹, Silvia Frosini ¹, Silvia Bonetti1 ¹, Elena Moretti ¹, Silvia Perazza1 ¹, Filippo M. Santorelli ², Chiara Pecini ¹

mmune-mediated necrotizing myopathy due to statins exposure

Luisa Villa ^{1 2}, Alberto Lerario ¹, Sonia Calloni ³, Lorenzo Peverelli ¹, Caterina Matinato ⁴, Federica de Liso ⁴, Ferruccio Ceriotti ⁴, Roberto Tironi ¹, Monica Sciacco ¹, Maurizio Moggio ¹, Fabio Triulzi ³ and Claudia Cinnante ³

Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study

Annamaria Gallone ¹, Federica Mazzi ², Silvia Bonanno ¹, Riccardo Zanin ³, Marco Moscatelli ^2,4, Domenico Aquino ², Lorenzo Maggi ¹
DOI 10.36185/2532-1900-074

Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review

Gloria Cristofano, Martina Fucci, Maria Carmela Oliva, Marta De Rinaldis, Antonio Trabacca
DOI 10.36185/2532-1900-072

NEWS and VIEWS: mitochondrial encephalomyopathies

Elena Caldarazzo Ienco, Daniele Orsucci, Vincenzo Montano, Elena Ferrari, Lucia Petrozzi, Marta Cheli, Annalisa LoGerfo, Costanza Simoncini, Gabriele Siciliano, Michelangelo Mancuso

Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III

Francesco Francini-Pesenti, Silvia Tresso and Nicola Vitturi

Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies

Eric P. Hoffman
DOI 10.36185/2532-1900-020

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions

Luisa Politano1 ¹, Marianna Scutifero ¹, Melania Patalano ², Alessandra Sagliocchi ², Antonella Zaccaro ², Federica Civati ³, Erika Brighina ³, Gianluca Vita ⁴, Sonia Messina ⁴, Maria Sframeli ⁴, Maria Elena Lombardo ⁵, Roberta Scalise ⁵, Giulia Colia ⁶, Maria Catteruccia ⁶, Angela Berardinelli ⁷, Maria Chiara Motta ⁷, Alessandra Gaiani ⁸, Claudio Semplicini ⁸, Luca Bello ⁸, Guja Astrea ⁹, Giulia Ricci ⁹, Maria Grazia D’Angelo ³, Giuseppe Vita ⁴, Marika Pane ⁵, Adele D’Amico ⁶, Umberto Balottin ⁷, Corrado Angelini ⁸, Roberta Battini ⁹ and Lorenza Magliano ²

PROCEEDINGS of the XIX CONGRESS of THE ITALIAN SOCIETY of MYOLOGY

Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?

Ludovica Pasca ^1,2, Alice Gardani ¹, Matteo Paoletti ³, Daniele Velardo ⁴, Angela Berardinelli ¹
DOI 10.36185/2532-1900-078

FORTHCOMING MEETINGS

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

Rita Machado ¹, Jorge Pinto-Basto ² and Luís Negrão ¹

Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation

Paola Zanfardino ¹, Alessandro Amati ¹, Easter Anna Petracca ¹, Filippo M. Santorelli ², Vittoria Petruzzella ¹
DOI 10.36185/2532-1900-085

Leber’s hereditary optic neuropathy (LHON) in an Apulian cohort of subjects

Angelica Bianco1 ¹, Luigi Bisceglia ², Paolo Trerotoli ³, Luciana Russo ¹, Leonardo D’Agruma ², Silvana Guerriero ¹ and Vittoria Petruzzella ¹

Exercise therapy for muscle and lower motor neuron diseases

Aisha Munawar Sheikh, John Vissing

Daytime alternatives for non-invasive mechanical ventilation in neuromuscular disorders

Anna Annunziata, Antonietta Coppola, Giorgio Emanuele Polistina, Pasquale Imitazione, Francesca Simioli, Maurizia Lanza, Rosa Cauteruccio, Giuseppe Fiorentino
DOI 10.36185/2532-1900-042

A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia

Boris Holzherr, Frank Lehmann-Horn, Elza Kuzmenkina, Chunxiang Fan, Karin Jurkat-Rott

Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene

Larysa N. Sivitskaya ¹, Nina G. Danilenko ¹, Tatiyana G. Vaikhanskaya ², Tatsiyana V. Kurushka ² and Oleg G. Davydenko ¹

Late-onset MADD: a rare cause of cirrhosis and acute liver failure?

Patrick Soldath ^1,2, Allan Lund ^1,3, John Vissing ^1,2
DOI 10.36185/2532-1900-003

Combined high flow nasal cannula and negative pressure ventilation as a novel respiratory approach in a patient with acute respiratory failure and limb-girdle muscular dystrophy

Pasquale Imitazione, Anna Annunziata, Maurizia Lanza, Giuseppe Fiorentino
DOI 10.36185/2532-1900-049

Sleep breathing disorders and nocturnal respiratory pattern in patients with Glycogenosis type II

Giuseppe Fiorentino ¹ , Anna Annunziata ¹ , Luisa Politano ²

Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families

Luís Negrão ¹ , Luciano Almendra ¹ , Joana Ribeiro ¹ , Anabela Matos ¹ , Argemiro Geraldo ¹ , Jorge Pinto-Basto ²

Impact of the COVID-19 pandemic on rehabilitation setting. Part 1: professionals’ views on the changes in routine care provided by a rehabilitation centre for patients with muscle diseases

Giulia Citarelli ¹, Ciro Garofalo ¹, Maria Grazia Esposito ¹, Vito Torre ¹, Lorenza Magliano ², Luisa Politano ¹
DOI 10.36185/2532-1900-054

18° Congresso Nazionale AIM

Efficacy and safety of ropivacaine HCl in peribulbar anaesthesia for cataract surgery in patients with myotonic dystrophy type 1

Alberto Palladino ¹, Maddalena De Bernardo ², Marianna Scutifero ¹, Michele Lanza ³, Silvio De Querquis ⁴, Nicola Rosa ², Luisa Politano ¹
DOI 10.36185/2532-1900-011

News from around the world

Novel mutations in LMNA A/C gene and associated phenotypes

Roberta Petillo ¹ , Paola D’Ambrosio ¹ , Annalaura Torella ² , Antonella Taglia ¹ , Esther Picillo ¹ , Alessandro Testori ¹ , Manuela Ergoli ¹ , Gerardo Nigro ³ , Giulio Piluso ² , Vincenzo Nigro ² , Luisa Politano ¹

How to define and enhance diagnostic and assistance pathways in neuromuscular diseases during the COVID-19 pandemic: the concept of network

Guja Astrea ¹, Gemma Marinella ^1,2, Caterina Agosto ³, Delia Gagliardi ⁴, Marina Grandis ⁵, Maria Giuliano ⁶, Luisa Politano ⁷
DOI 10.36185/2532-1900-060

Beneficial effects of one-month sacubitril/valsartan treatment in a patient affected by end-stage dystrophinopathic cardiomyopathy

Andrea Antonio Papa ¹, Emanuele Gallinoro ¹, Alberto Palladino ², Paolo Golino ¹
DOI 10.36185/2532-1900-018

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation

Saeed A. Bohlega ¹, Sarah Alfawaz ¹, Hussam Abou-Al-Shaar ², Hindi N. Al-Hindi ³, Hatem N. Murad ¹, Mohamed S. Bohlega ¹, Brian F. Meyer ^{4 5} and Dorota Monies ^{4 5}

Telemedicine applied to neuromuscular disorders: focus on the COVID-19 pandemic era

Melania Giannotta ¹, Cristina Petrelli ², Antonella Pini ¹
DOI 10.36185/2532-1900-066

Family context in muscular dystrophies: psychosocial aspects and social integration

Lorenza Magliano ¹, Luisa Politano ²

Novel desmoplakin mutations in familial Carvajal syndrome

Danat Yermakovich ¹, Larysa Sivitskaya ¹, Tatiyana Vaikhanskaya ², Nina Danilenko ¹ and Iryna Motuk ³

Impact of the COVID-19 pandemic on neuromuscular rehabilitation setting. Part 2: patients and families’ views on the received health care during the pandemic

Lorenza Magliano ¹, Giulia Citarelli ², Maria Grazia Esposito ², Vito Torre ², Luisa Politano ²
DOI 10.36185/2532-1900-075

New generation emerging technologies for neurorehabilitation and motor assistance

Antonio Frisoli ¹, Massimiliano Solazzi ¹, Claudio Loconsole ², Michele Barsotti ¹

Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report

Mutaz Amin ¹, Yousuf Bakhit ², Mahmoud Koko ^{3 4}, Mohamed Osama Mirgahni Ibrahim ¹, MA Salih ⁵, Muntaser Ibrahim ³ and Osheik A Seidi ⁶

News from around the world

Giovanni Nigro and the Naples’s school: historical contribution to the knowledge of heart involvement in Duchenne/Becker muscular dystrophies

Luisa Politano
DOI 10.36185/2532-1900-021

Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?

Costanza Simoncini, Gabriele Siciliano, Gloria Tognoni and Michelangelo Mancuso

Juvenile Myasthenia Gravis in a 14-year-old adolescent masked by mood disorder: the complex balance between neurology and psychiatry

Rossella D’Alessandro ¹, Anna Salvalaggio ¹, Martina Vacchetti ¹, Tiziana E. Mongini ², Federica S. Ricci ¹
DOI 10.36185/2532-1900-079

Acute sensorimotor polyneuropathy as an early sign of polyarteritis nodosa. A case report

Valery M. Kazakov ^{1 2}, Dmitry I. Rudenko ^{1 2}, Tima R. Stuchevskaya ^{1 2/sup>, Oxana V. Posokhina 1 2, Alexander A. Skoromets 1 and Semen V. Perfilyev 1}

The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy

Eleonora Diella ^1*, Antonella LoMauro ^2*, Morena Delle Fave ¹, Rossella Cima ¹, Maria Grazie D’Angelo ¹
DOI 10.36185/2532-1900-084

Bethlem myopathy in a Portuguese patient – case report

Ana Inês Martins ¹, Cristina Marques ², Jorge Pinto-Basto ³ and Luis Negrão ¹

Exercise therapy in muscle diseases: open issues and future perspectives

Gabriele Siciliano, Erika Schirinzi, Costanza Simoncini and Giulia Ricci

Genotype phenotype analysis in a family carrying truncating mutations in the titin gene

Leema Reddy Peddareddygari ¹, Ada Baisre-de León ², Raji P. Grewal ^1,3
DOI 10.36185/2532-1900-043

Vladimir Karlovich Roth (1848-1916): the founder of neuromuscular diseases studies in Russia

Valery M. Kazakov ^1,2 , Dmitry I. Rudenko ^1,2 , Tima R. Stuchevskaya ^1,2

Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report

Andrea Antonio Papa ^1,2, Anna Rago ¹, Roberta Petillo ², Paola D’Ambrosio ², Marianna Scutifero ², Marisa De Feo ³, Ciro Maiello ⁴ and Alberto Palladino ²

Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene

Luís Negrão ¹, Rita Machado ¹, Miguel Lourenço ², Ana Fernandez-Marmiesse ^3,4, Olinda Rebelo ¹
DOI 10.36185/2532-1900-004

Anti-HMGCR antibodies and asymptomatic hyperCKemia. A case report

Francesca Torri ¹, Greta Ali ², Lucia Chico ¹, Gabriele Siciliano ¹, Giulia Ricci ¹
DOI 10.36185/2532-1900-050

Adenosine-induced sinus tachycardia in a patient with Myotonic Dystrophy type 1

Vincenzo Russo ¹ , Gerardo Nigro ¹ , Andrea Antonio Papa ¹ , Anna Rago ¹ , Nadia Della Cioppa ² , Anna Cristiano ¹ , Maria Giovanna Russo ¹

Ventricular fibrillation induced by coagulating mode bipolar electrocautery during pacemaker implantation in Myotonic Dystrophy type 1 patient

Vincenzo Russo ¹ , Anna Rago ¹ , Federica Di Meo ¹ , Nadia Della Cioppa ² , Andrea Antonio Papa ¹ , Maria Giovanna Russo ¹ , Gerardo Nigro ¹

Non-invasive mechanical ventilation as an alternative respiratory support during gastrostomy tube placement, in a patient with Duchenne muscular dystrophy, 24/24 hours ventilation dependent

Anna Annunziata ¹, Rosa Cauteruccio ¹, Emilio di Costanzo ², Giuseppe Fiorentino ¹
DOI 10.36185/2532-1900-055

News from around the world

Naples, Italy – May 18-20, 2015

Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

George K. Papadimas ¹, Efthimia Vargiami ², Pinelopi Dragoumi ², Rudy Van Coster ³, Joel Smet ³, Sara Seneca ⁴, Constantinos Papadopoulos ¹, Evangelia Kararizou ¹, Dimitrios Zafeiriou ²
DOI 10.36185/2532-1900-012

A multi-parametric protocol to study exercise intolerance in McArdle’s disease

Giulia Ricci ^1* , Federica Bertolucci ^1* , Annalisa Logerfo ¹ , Costanza Simoncini ¹ , Riccardo Papi ² , Ferdinando Franzoni ² , Giacomo Dell’Osso ³ , Adele Servadio ⁴ , Maria Chiara Masoni ⁵ , Gabriele Siciliano ¹

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age

Gaia Scarpini ¹, Maria Lucia Valentino ^2,3, Melania Giannotta ¹, Luca Ragni ⁴, Annalaura Torella ⁵, Marta Columbaro ⁶, Vincenzo Nigro ⁵, Antonella Pini ¹
DOI 10.36185/2532-1900-061

Silent dysphagia in two patients with Steinert disease and recurrent respiratory exacerbations

Anna Annunziata ¹, Tullio Valente ², Rosa Cauteruccio ¹, Giuseppe Fiorentino ¹
DOI 10.36185/2532-1900-019

Myotonic dystrophy type 1 and pulmonary embolism: successful thrombus resolution with dabigatran etexilate therapy

Emanuele Gallinoro ¹, Andrea Antonio Papa ¹, Anna Rago ¹, Simona Sperlongano ¹, Antonio Cassese ¹, Nadia Della Cioppa ², Maria Cristina Giada Magliocca ³, Giovanni Cimmino ¹ and Paolo Golino ¹

A novel compound heterozygous mutation in PYGM gene associated with McArdle’s disease

Salvatore Iacono ¹, Antonino Lupica ¹, Vincenzo Di Stefano ¹, Eugenia Borgione ², Filippo Brighina ¹
DOI 10.36185/2532-1900-067

Increased heterogeneity of ventricular repolarization in myotonic dystrophy type 1 population

Vincenzo Russo, Andrea Antonio Papa, Anna Rago, Paola D’Ambrosio, Giovanni Cimmino, Alberto Palladino, Luisa Politano, Gerardo Nigro

Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-up

Andrea Antonio Papa ¹, Federica Verrillo ¹, Marianna Scutifero ², Anna Rago ¹, Salvatore Morra ², Antonio Cassese ¹, Nadia Della Cioppa ³, Maria Cristina Giada Magliocca ⁴, Dario Galante ⁵, Alberto Palladino ², Paolo Golino ¹ and Luisa Politano ²

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report

Esther Picillo ¹, Annalaura Torella ^1,2, Luigia Passamano ¹, Vincenzo Nigro ^1,2,3, Luisa Politano ¹
DOI 10.36185/2532-1900-073

Hard ways towards adulthood: the transition phase in young people with myotonic dystrophy

Sigrid Baldanzi, Giulia Ricci, Costanza Simoncini, Mirna Cosci o Di Coscio, Gabriele Siciliano

Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine

Constantinos Papadopoulos, Vasiliki Zouvelou and George Konstantinos Papadimas

Impaired myocardial strain in early stage of Duchenne muscular dystrophy: its relation with age and motor performance

Lilia Oreto ^1,2, Gian Luca Vita ³, Giuseppe Mandraffino ^1,4, Scipione Carerj ², Maria Pia Calabrò ⁵, Roberta Manganaro ², Maurizio Cusmà-Piccione ², Maria Chiara Todaro ^2,6, Maria Sframeli ³, Maria Cinquegrani ⁴, Antonio Toscano ⁷, Giuseppe Vita ^3,7, Sonia Messina ^3,7, Concetta Zito ²
DOI 10.36185/2532-1900-022

Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene

Anna Ardissone ¹, Isabella Moroni ¹, Pia Bernasconi ² and Raffaella Brugnoni ²

NEWS FROM AROUND THE WORLD

News from around the world

NEWS FROM AROUND THE WORLD

Fatigue in myotonic dystrophy type 1: a seven-year prospective study

Stojan Peric ¹, Bogdan Bjelica ¹, Ivo Bozovic ¹, Jovan Pesovic ², Teodora Paunic ¹, Marija Banovic ¹, Milos Brkusanin ², Ksenija Aleksic ¹, Ivana Basta ¹, Dusanka Savic Pavicevic ² and Vidosava Rakocevic Stojanovic ¹

News from around the world

Coexistence of myasthenia gravis and amyotrophic lateral sclerosis in a Bosnian male: an unusual clinical presentation

Renata Hodzic ¹, Nermina Piric ¹, Sanela Zukic ¹, Amela Cickusic ²
DOI 10.36185/2532-1900-044

Abstracts (in alphabetical order of the 1st Author)

Complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a patient with Myotonic Dystrophy type 1 and atrial fibrillation

Anna Rago ¹, Andrea Antonio Papa ^{1 2}, Giulia Arena ³, Marco Mosella ⁴, Antonio Cassese ¹, Alberto Palladino ² and Paolo Golino ¹

Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: a case report

Rosa Iodice ¹, Lorenzo Ugga ², Francesco Aruta ¹, Aniello Iovino ¹, Lucia Ruggiero ¹
DOI 10.36185/2532-1900-005

NEWS FROM AROUND THE WORLD

GNE myopathy: a personal trip from bedside observation to therapeutic trials

Zohar Argov

Facio-scapulo-humeral muscular dystrophy and its connection with facio-scapulo-peroneal muscular dystrophy 4q35-linked: some historical remarks

Valery Kazakov, Dmitry Rudenko, Vladislav Kolynin, Tima Stuchevskaya

NEWS FROM AROUND THE WORLD

Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

Edoardo Malfatti ¹, Denise Cassandrini ², Anna Rubegni ², Filippo M. Sartorelli ², Marcello Villanova ³
DOI 10.36185/2532-1900-013

Multidimensional aspects of pain in myotonic dystrophies

Marina Peric ¹ , Stojan Peric ² , Nada Rapajic ² , Valerija Dobricic ² , Dusanka Savic-Pavicevic ³ , Ivana Nesic ² , Svetlana Radojicic ² , Ivana Novakovic ² , Dragana Lavrnic ² , Vidosava Rakocevic-Stojanovic ²

Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy

Ilaria Bitetti ¹, Cinzia Mautone ¹, Marianna Bertella ², Maria Rosaria Manna ², Antonio Varone ¹
DOI 10.36185/2532-1900-062

Professor Frank Lehmann-Horn (1948-2018)

Reinhardt Rüdel

Peculiar histological and ultrastructural skeletal muscle alterations in a patient with CMV infection and autoimmune myositis: case evaluation and brief literature review

Michela Ripolone ¹, Laura Napoli ¹, Vittorio Mantero ², Monica Sciacco ¹, Simona Zanotti ¹
DOI 10.36185/2532-1900-068

Successful treatment of periodic paralysis with coenzyme Q10: two case reports

Yuwei Da ¹, Lin Lei ¹, Karin Jurkat-Rott ², Frank Lehmann-Horn ³

Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report

Paola D’Ambrosio ¹, Chiara Orsini ¹, Vincenzo Nigro ² and Luisa Politano ¹

NEWS FROM AROUND THE WORLD

News from around the world

News from around the world

Quadriceps muscle strength in Duchenne muscular dystrophy and effect of corticosteroid treatment

Luciano Merlini ¹, Ilaria Cecconi ², Antonia Parmeggiani ², Duccio Maria Cordelli ², Ada Dormi ³
DOI 10.36185/2532-1900-023

Effect on lung function of mounthpiece ventilation in Steinert disease. A case report

Anna Annunziata ¹, Giuseppe Fiorentino ¹ and Antonio Esquinas ²

FORTHCOMING MEETINGS

FORTHCOMING MEETINGS

FORTHCOMING MEETINGS

News from around the world

NEWS FROM AROUND THE WORLD

Professor Giovanni Nigro

Luisa Politano and Vincenzo Nigro

Myotonic dystrophy type 1 and high ventricular vulnerability at the electrophysiological evaluation: ICD yes or not?

Giusy Sirico ¹, Andrea Montisci ², Francesco Secchi ^3,4, Massimo Mantica ¹
DOI 10.36185/2532-1900-006

FORTHCOMING MEETINGS

How we developed, at the Centre/Institute for Neuromuscular Diseases, differential diagnostics of Spinal Muscle Atrophies / Amyotrophic Lateral Sclerosis (SMA/ALS) and tried to influence the development of the disease

Anica Jušić

FORTHCOMING MEETINGS

October 15-17, 2014 – IRCCS “S. Camillo”, Lido di Venezia (VE), Italy

MPV promote adherence to nocturnal NIV in a Duchenne patient

Anna Annunziata, Antonietta Coppola, Antonella Marotta, Giuseppe Fiorentino
DOI 10.36185/2532-1900-014

Muscle histology changes after short term vibration training in healthy controls

Benedikt Schoser

NEWS FROM AROUND THE WORLD

News from around the world

Temporary positive expiratory pressure (TPEP) as an alternative approach in the treatment of persistent atelectasis in a patient with Steinert disease: a case report

Antonietta Coppola, Anna Annunziata, Elena Sciarrillo, Salvatore Musella, Giuseppe Fiorentino
DOI 10.36185/2532-1900-069

oltage-directed cavo-tricuspid isthmus ablation using a novel ablation catheter mapping technology in a myotonic dystrophy type I patient

Vincenzo Russo, Anna Rago, Andrea Antonio Papa, Federica Di Meo, Carmine Ciardiello, Giovanni Cimmino, Gerardo Nigro

News from around the world

FORTHCOMING MEETINGS

Forthcoming Meetings

LGMD. Identification, description and classification

Corrado Angelini
DOI 10.36185/2532-1900-024

News from around the world

FORTHCOMING MEETINGS

News from around the world

Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels

Francesca Bianchi ¹, Costanza Simoncini ¹, Raffaella Brugnoni ², Giulia Ricci ¹, Gabriele Siciliano ¹
DOI 10.36185/2532-1900-007

Erich Kuhn (1920-2014)

Reinhardt Rüdel

Rhabdomyolysis in hyponatremia and paraneoplastic syndrome of inappropriate antidiuresis

Elisabetta D’Adda, Rosina Paletta, Fabio Brusaferri, Antonio Cagnana, Maria Teresa Ferrò, Michele Gennuso, Isabella Ghione, Riccardo Saponara, Alessandro Prelle

FORTHCOMING MEETINGS

CONGRESSO CONGIUNTO AIM/ASNP

NEWS FROM AROUND THE WORLD

News from around the world

Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports

Claudia Dosi ¹, Anna Rubegni1 ¹ Denise Cassandrini ¹, Alessandro Malandrini ², Lorenzo Maggi ³, M. Alice Donati ⁴, Filippo M. Santorelli ¹
DOI 10.36185/2532-1900-025

FORTHCOMING MEETINGS

Minutes of the European POmpe Consortium (EPOC) Meeting

Benedikt Schoser ¹ , Pascal Laforêt ² , Michelle E. Kruijshaar ³ , Antonio Toscano ⁴ , Pieter A. van Doorn ⁵ , Ans T. van der Ploeg ³ , on behalf of the European POmpe Consortium (EPOC)

FORTHCOMING MEETINGS

Forthcoming Meetings

Retraction Statement

Myotonic dystrophy type 2: the 2020 update

Giovanni Meola ^1,2
DOI 10.36185/2532-1900-026

Professor Irena Hausmanowa-Petrusewicz (1917-2015)

Andrzej Kochański

Late-onset myopathies: clinical features and diagnosis

Marianne de Visser
DOI 10.36185/2532-1900-027

Congresso Congiunto AIM-ASNP

Panorama of the distal myopathies

Marco Savarese ^1,2, Jaakko Sarparanta ^1,2, Anna Vihola ^1,2,3, Per Harald Jonson ^1,2, Mridul Johari ^1,2, Salla Rusanen1 ^1,2, Peter Hackman ^1,2, Bjarne Udd ^1,2,4
DOI 10.36185/2532-1900-028

Core myopathies – a short review

Haluk Topaloglu
DOI 10.36185/2532-1900-029

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients

Leonardo Galleni Leão ¹, Lucas Santos Souza ¹, Letícia Nogueira ¹, Rita de Cássia Mingroni Pavanello ¹, Juliana Gurgel-Giannetti ², Umbertina C Reed ³, Acary S.B. Oliveira ⁴, Thais Cuperman ⁴, Ana Cotta ⁵, Julia FPaim ⁵, Mayana Zatz ¹, Mariz Vainzof ¹
DOI 10.36185/2532-1900-030

Magnetic resonance imaging in muscular dystrophies

Luisa Politano, Giovanni Nigro

The changing spectrum of drug-induced myopathies

Frank L. Mastaglia
DOI 10.36185/2532-1900-031

Inflammatory myopathies: update on diagnosis, pathogenesis and therapies, and COVID-19-related implications

Marinos C. Dalakas
DOI 10.36185/2532-1900-032

Giant cell myositis and myocarditis revisited

Piraye Oflazer
DOI 10.36185/2532-1900-033

The impact of SARS-CoV-2 on skeletal muscles

Maria Rita De Giorgio ^1,2, Stefania Di Noia ^2,3, Cinzia Morciano ^1,2, Diana Conte ^4,5
DOI 10.36185/2532-1900-034

The correlation between cardiac and skeletal muscle pathology in animal models of idiopathic inflammatory myopathies

Francesco Prisco, Serenella Papparella, Orlando Paciello
DOI 10.36185/2532-1900-035

Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome

Maria Rosaria D’Apice ¹, Angela De Dominicis ¹, Michela Murdocca ², Francesca Amati ², Annalisa Botta ², Federica Sangiuolo ^1,2, Giovanna Lattanzi ⁴, Massimo Federici ⁴, Giuseppe Novelli ^1,2,5,6
DOI 10.36185/2532-1900-036

25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy

Francesco Danilo Tiziano ¹, Eduardo F. Tizzano ^2,3
DOI 10.36185/2532-1900-037

Myasthenia gravis: MuSK MG, late-onset MG and ocular MG

Feza Deymeer
DOI 10.36185/2532-1900-038

Spinal cord injuries, human neuropathology and neurophysiology

Milan R. Dimitrijevic ^1,2, Byron A. Kakulas ³
DOI 10.36185/2532-1900-039

Congresso Congiunto AIM – ASNP