| H00703 | |
| H番号 | H00703 |
| 名称 | ミオシンストレージミオパチー |
| 概要 | Myosin storage myopathy (MSM), also called hyaline body myopathy, is a rare congenital myopathy with variable inheritance characterized by the presence of sub-sarcolemmal hyaline bodies in type I muscle fibers and predominantly proximal muscle weakness. Clinically, patients exhibit variable age of onset ranging from birth through childhood, and occasionally middle age. Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency. MSM has been associated with 4 missense mutations in the MYH7 gene, which encodes slow/beta-cardiac myosin heavy chain (MyHC). The disease causing mutations in MYH7 are located in the alpha-helical coiled-coil tail. |
| 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 | MYH7 [HSA:4625] [KO:K17751] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C72.0Y ICD-10: G71.2 MeSH: C564253 OMIM: 608358 |
| 文献 | PMID:21288719 著者 Ortolano S, Tarrio R, Blanco-Arias P, Teijeira S, Rodriguez-Trelles F, Garcia-Murias M, Delague V, Levy N, Fernandez JM, Quintans B, Millan BS, Carracedo A, Navarro C, Sobrido MJ タイトル A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. 雑誌 Neuromuscul Disord 21:254-62 (2011) DOI:10.1016/j.nmd.2010.12.011 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 |