KEGG   DISEASE: アメリカ先住民ミオパチー
エントリ  
H02084                                                             
名称    
アメリカ先住民ミオパチー
概要    
Native American myopathy (NAM) is autosomal recessive myopathy that was first reported in the Lumbee Indians of North Carolina. NAM features include myopathic facies, susceptibility to malignant hyperthermia, kyphoscoliosis, and cleft palate. The recent study identified a mutation in STAC3 as the cause for NAM.
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
     H02084  アメリカ先住民ミオパチー
病因遺伝子 
STAC3 [HSA:246329] [KO:K23713]
リンク   
ICD-11: 8C72.Y
MeSH: C538343
OMIM: 255995
文献    
PMID:23736855
  著者
Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant L, Satish A, Cui WW, Zhou W, Sprague SM, Stamm DS, Powell CM, Speer MC, Franzini-Armstrong C, Hirata H, Kuwada JY
  タイトル
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.
  雑誌
Nat Commun 4:1952 (2013)
DOI:10.1038/ncomms2952
文献    
PMID:18553514
  著者
Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Thorne LB, Speer MC, Powell CM
  タイトル
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.
  雑誌
Am J Med Genet A 146A:1832-41 (2008)
DOI:10.1002/ajmg.a.32370
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