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

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

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Sept 2019

Peric Stojan, Stevanovic Jelena, Johnson Katherine, Kosac Ana, Peric Marina, Brankovic Marija, Marjanovic Ana, Jankovic Milena, Banko Bojan, Milenkovic Sanja, Durdic Milica, Bozovic Ivo, Glumac Jelena Nikodinovic, Lavrnic Dragana, Maksimovic Ruzica, Milic-Rasic Vedrana, Rakocevic-Stojanovic Vidosava

Abstract excerpt

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...

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PMID: 31788660
PMCID: PMC6859413

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