KEGG   DISEASE: 遠位型ミオパチー, Tateyama タイプ
エントリ  
H02182                                                             
名称    
遠位型ミオパチー, Tateyama タイプ
  上位グループ
遠位型ミオパチー [DS:H00594]
概要    
Distal myopathy, Tateyama type is a peculiar form of distal myopathy associated with reduced caveolin-3 in muscle fibers in which the muscle atrophy is restricted to the small muscles of the hands and feet. Gene analysis has been disclosed heterozygous mutations in the caveolin-3 gene.
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
     H02182  遠位型ミオパチー, Tateyama タイプ
パスウェイ 
hsa04144  Endocytosis
hsa04510  Focal adhesion
病因遺伝子 
CAV3 [HSA:859] [KO:K12959]
リンク   
ICD-11: 8C75
OMIM: 614321
文献    
  著者
Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y
  タイトル
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
  雑誌
Neurology 58:323-5 (2002)
DOI:10.1212/WNL.58.2.323
文献    
  著者
Gonzalez-Perez P, Gallano P, Gonzalez-Quereda L, Rivas-Infante E, Teijeira S, Navarro C, Bautista-Lorite J
  タイトル
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
  雑誌
J Neurol Sci 276:95-8 (2009)
DOI:10.1016/j.jns.2008.09.009
LinkDB    

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