| H00567 | |
| H番号 | H00567 |
| 名称 | 肢帯型筋ジストロフィー 1C |
| 概要 | 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. |
| カテゴリ | 神経系疾患; 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | CAV3 [HSA:859] [KO:K12959] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C70.40 ICD-10: G71.0 MeSH: D049288 OMIM: 607801 |
| 文献 | PMID:9537420 著者 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 タイトル Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 雑誌 Nat Genet 18:365-8 (1998) DOI:10.1038/ng0498-365 PMID:11251997 著者 de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M タイトル Mutations in the caveolin-3 gene: When are they pathogenic? 雑誌 Am J Med Genet 99:303-7 (2001) DOI:10.1002/1096-8628(2001)9999:9999<::AID-AJMG1168>3.0.CO;2-O |