| H00567 | |
| H number | H00567 |
| Name | Limb-girdle muscular dystrophy 1C; Limb-girdle muscular dystrophy, caveolin myopathy |
| Description | Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies characterized by a progressive weakness of the pelvic and shoulder girdle musculature. It has been reported that loss-of-function mutations in caveolin-3 gene are associated with a form of muscular dystrophy, LGMD1C. Caveolins are the principal protein components of caveolae which represent appendages or sub-compartments of plasma membranes. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | CAV3 [HSA:859] [KO:K12959] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C70.40 ICD-10: G71.0 MeSH: D049288 OMIM: 607801 |
| Reference | PMID:9537420 AUTHORS Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F TITLE Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. JOURNAL Nat Genet 18:365-8 (1998) DOI:10.1038/ng0498-365 PMID:11251997 AUTHORS de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M TITLE Mutations in the caveolin-3 gene: When are they pathogenic? JOURNAL Am J Med Genet 99:303-7 (2001) DOI:10.1002/1096-8628(2001)9999:9999<::AID-AJMG1168>3.0.CO;2-O |