Limb-girdle muscular dystrophy 2A (LGMDR1), also known as calpainopathy, is caused by autosomal recessive mutations in the CAPN3 gene encoding for calpain-3, a nonlysosomal calcium-dependent protease. This form of disorder is characterized by progressive muscle weakness and atrophy of the shoulder and pelvic girdle musculature, an elevated serum creatine kinase activity and a degeneration/regeneration pattern in muscular biopsy samples. Recently, families with autosomal dominant LGMD due to CAPN3 mutations have been reported.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C70 Muscular dystrophy
H00592 Calpainopathy
