KEGG   DISEASE: スフェロイド小体ミオパチー
エントリ  
H01291                                                             
名称    
スフェロイド小体ミオパチー;
筋原線維性ミオパチー 3
概要    
Spheroid body myopathy (SBM) is a rare autosomal dominant neuromuscular disorder characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. The unique feature noted pathologically was the spheroid bodies found within the type I muscle fibers. SBM is caused by mutations in TTID/ MYOT. Myotilin induces actin filament bundling and stabilizes the assembled bundles.
カテゴリ  
神経系疾患; 筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  神経筋接合部または筋の疾患
   原発性筋疾患
    8C72  先天性ミオパチー
     H01291  スフェロイド小体ミオパチー
病因遺伝子 
(MFM3) MYOT [HSA:9499] [KO:K19875]
リンク   
ICD-11: 8C72.0Y
MeSH: C563775
OMIM: 609200
文献    
  著者
Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC
  タイトル
A mutation in myotilin causes spheroid body myopathy.
  雑誌
Neurology 65:1936-40 (2005)
DOI:10.1212/01.wnl.0000188872.28149.9a
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