KEGG   DISEASE: 還元体筋障害
エントリ  
H00657                                                             
名称    
還元体筋障害
概要    
Reducing body myopathy (RBM) is a rare, sometimes fatal, X-linked disorder characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates in histological muscle sections which exert a reducing activity on nitro-blue tetrazolium (NBT) staining. The causative gene for RBM is FHL1 encoding four and a half LIM domains.
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
     H00657  還元体筋障害
病因遺伝子 
FHL1 [HSA:2273] [KO:K14365]
リンク   
ICD-11: 8C72.Y
MeSH: C567468 C567469
OMIM: 300717 300718
文献    
  著者
Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ
  タイトル
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
  雑誌
Neuromuscul Disord 21:237-51 (2011)
DOI:10.1016/j.nmd.2011.01.001
文献    
  著者
Shalaby S, Hayashi YK, Nonaka I, Noguchi S, Nishino I
  タイトル
Novel FHL1 mutations in fatal and benign reducing body myopathy.
  雑誌
Neurology 72:375-6 (2009)
DOI:10.1212/01.wnl.0000341311.84347.a0
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