| H00702 | |
| H番号 | H00702 |
| 名称 | キャップ病 |
| 概要 | Cap myopathy is a rare congenital myopathy morphologically characterized by the presence of cap-like structures which are sharply demarcated structures of disorganized thin filaments in the periphery of muscle fibers. These structures are in fact disarranged myofibrils with enlarged Z discs and no thick filaments. The severity of the disease is related to the number of fibers affected. Therefore, patients may present with a neonatal fatal form or have a more stable course of the disease in the infant non-fatal form. Respiratory problems are common. All the currently recognized genes associated with cap myopathy (TPM2, TPM3 and now ACTA1) encode components of the sarcomeric thin filaments. |
| 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 | TRM2 [HSA:7169] [KO:K10374] TRM3 [HSA:7170] [KO:K09290] ACTA1 [HSA:58] [KO:K10354] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C72.00 ICD-10: G71.2 MeSH: C579969 OMIM: 609285 609284 |
| 文献 | PMID:20303757 著者 Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J タイトル Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 雑誌 Neuromuscul Disord 20:238-40 (2010) DOI:10.1016/j.nmd.2010.01.011 PMID:19553118 著者 De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J タイトル A TPM3 mutation causing cap myopathy. 雑誌 Neuromuscul Disord 19:685-8 (2009) DOI:10.1016/j.nmd.2009.06.365 PMID:19953533 著者 Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH タイトル Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. 雑誌 Hum Mutat 31:176-83 (2010) DOI:10.1002/humu.21157 |