| H00596 | |
| H番号 | H00596 |
| 名称 | 埜中ミオパチー; 埜中遠位ミオパチー; 遺伝性封入体ミオパチー |
| 概要 | Nonaka myopathy, also known as hereditary inclusion body myopathy (HIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the rate-limiting step in sialic acid biosynthesis. The presence of scattered small angular and atrophic fibers. |
| 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 | GNE [HSA:10020] [KO:K12409] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C75 ICD-10: G71.8 MeSH: C536816 OMIM: 605820 |
| 文献 | PMID:18646567 著者 Malicdan MC, Noguchi S, Nishino I タイトル Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy? 雑誌 Acta Myol 26:171-5 (2007) PMID:17029922 著者 Udd B タイトル Molecular biology of distal muscular dystrophies--sarcomeric proteins on top. 雑誌 Biochim Biophys Acta 1772:145-58 (2007) DOI:10.1016/j.bbadis.2006.08.005 PMID:11528398 著者 Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S タイトル The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 雑誌 Nat Genet 29:83-7 (2001) DOI:10.1038/ng718 |