| H00592 | |
| H number | H00592 |
| Name | Calpainopathy; Limb-girdle muscular dystrophy 2A |
| Description | 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. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | CAPN3 [HSA:825] [KO:K08573] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C70.41 ICD-10: G71.0 MeSH: C535895 OMIM: 253600 |
| Reference | PMID:16884488 AUTHORS Duguez S, Bartoli M, Richard I TITLE Calpain 3: a key regulator of the sarcomere? JOURNAL FEBS J 273:3427-36 (2006) DOI:10.1111/j.1742-4658.2006.05351.x PMID:21496626 AUTHORS Gallardo E, Saenz A, Illa I TITLE Limb-girdle muscular dystrophy 2A. JOURNAL Handb Clin Neurol 101:97-110 (2011) DOI:10.1016/B978-0-08-045031-5.00006-2 |