Calpainopathy

Definition:

Limb-girdle muscular dystrophy 2A (LGMD2A) is caused by 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.

References:

[1]. Eduard Gallardo, et al. Limb-girdle muscular dystrophy 2A. Handb Clin Neurol. 2011;101:97-110. [Content Brief]

[2]. Stéphanie Duguez, et al. Calpain 3: a key regulator of the sarcomere?. FEBS J. 2006 Aug;273(15):3427-36. [Content Brief]

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