KEGG   DISEASE: Welander 遠位型ミオパチー
エントリ  
H01975                                                             
名称    
Welander 遠位型ミオパチー
  上位グループ
遠位型ミオパチー [DS:H00594]
概要    
Welander distal myopathy (WDM) is an autosomal dominant disorder with late onset predominantly affecting distal extensor muscles of the hands and the feet. The disorder is considered as the most common of the distal myopathies but is almost only seen in Sweden and some parts of Finland. WDM is caused by mutations in TIA1 gene which encodes a key component of stress granules.
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
    8C75  遠位型ミオパチー
     H01975  Welander 遠位型ミオパチー
病因遺伝子 
TIA1 [HSA:7072] [KO:K13201]
リンク   
ICD-11: 8C75
MeSH: C536690
OMIM: 604454
文献    
PMID:9608564
  著者
Ahlberg G, Borg K, Edstrom L, Anvret M
  タイトル
Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies.
  雑誌
Neuromuscul Disord 8:111-4 (1998)
DOI:10.1016/S0960-8966(98)00007-8
文献    
  著者
Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evila A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Ahlberg G, Edstrom L, Udd B
  タイトル
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
  雑誌
Ann Neurol 73:500-9 (2013)
DOI:10.1002/ana.23831
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