Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene

Limb-girdle muscular dystrophy type 2A (LGMD2A) or calpainopathy is an autosomal recessive disorder caused by calpain-3 deficiency due to mutations in the CAPN3 gene [1-4]. Recently, a CAPN3 gene heterozygous deletion (c.643_663del21) has been associated with an autosomal dominant transmission pattern in thirteen unrelated European families [5, 6]. Calpain-3 is a muscle-specific calcium-dependent intracellular cysteine protease, essential for skeletal muscle regeneration, sarcolemma repair, sarcomere remodelling, cytoskeleton regulation and calcium homeostasis [1-4].

Source: Neuromuscular Disorders - October 9, 2018 Category: Neurology Authors: Miguel Oliveira Santos, Pedro Ninitas, Isabel Concei ção Source Type: research