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

1 Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Serbia; 2 The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; 3 Clinic for Neurology and Psychiatry for Children and Youth, Belgrade, Serbia; 4 Mother and Child Health Care Institute, Belgrade, Serbia; 5 Center for Magnetic Resonance Imaging, Clinical Center of Serbia, School of Medicine, University of Belgrade, Serbia; 6 Clinical-Hospital Center Zemun, Belgrade, Serbia * These two authors equally contributed to the paper

Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the CAPN3 gene. The aim of this study was to examine genetic and phenotypic features of Serbian patients with calpainopathy. The study comprised 19 patients with genetically confirmed calpainopathy diagnosed at the Neurology Clinic, Clinical Center of Serbia and the Clinic for Neurology and Psychiatry for Children and Youth in Belgrade, Serbia during a ten-year period. Eighteen patients in this cohort had c.550delA mutation, with nine of them being homozygous. In majority of the patients, disease started in childhood or early adulthood. The disease affected shoulder girdle – upper arm and pelvic girdle – thigh muscles with similar frequency, with muscles of lower extremities being more severely impaired. Facial and bulbar muscles were spared. All patients in this cohort, except two, remained ambulant. None of the patients had cardiomyopathy, while 21% showed mild conduction defects. Respiratory function was mildly impaired in 21% of patients. Standard muscle histopathology showed myopathic and dystrophic pattern. In conclusion, the majority of Serbian LGMD2A patients have the same mutation and similar phenotype.

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