| H00565 | |
| H番号 | H00565 |
| 名称 | サルコグリカン異常症 |
| 概要 | Sarcoglycanopathies are a group of a four genetically closely related muscular dystrophies with a phenotype often similar to the X-linked Duchenne muscular dystrophy [DS:H00562]. It has been demonstrated that pathological mutations of the alpha-sarcoglycan (SG), beta-SG, gamma-SG, and delta-SG genes cause autosomal recessive muscular dystrophies. Clinical presentation of sarcoglycanopathies is characterized by a slowly progressive proximal muscle weakness, leading to loss of ambulation during adolescence in most patients. |
| 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 | (LGMD2C) SGCG [HSA:6445] [KO:K12564] (LGMD2D) SGCA [HSA:6442] [KO:K12565] (LGMD2E) SGCB [HSA:6443] [KO:K12566] (LGMD2F) SGCD [HSA:6444] [KO:K12563] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C70.4 ICD-10: G71.0 MeSH: D058088 OMIM: 253700 608099 604286 601287 |
| 文献 | PMID:21496623 著者 Kirschner J, Lochmuller H タイトル Sarcoglycanopathies. 雑誌 Handb Clin Neurol 101:41-6 (2011) DOI:10.1016/B978-0-08-045031-5.00003-7 PMID:19781108 著者 Sandona D, Betto R タイトル Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. 雑誌 Expert Rev Mol Med 11:e28 (2009) DOI:10.1017/S1462399409001203 |