KEGG   DISEASE: 錐体外路症状を伴うミオパチー
エントリ  
H02447                                                             
名称    
錐体外路症状を伴うミオパチー
概要    
Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive disorder characterized by proximal myopathy, learning difficulties, and a progressive extrapyramidal movement disorder. Mutations in MICU1 have been reported in patients with this disease. MICU1 encodes a regulatory subunit of the Ca2+ uniporter complex in the inner mitochondrial membrane.
カテゴリ  
神経系疾患
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
    8C73  ミトコンドリアミオパチー
     H02447  錐体外路症状を伴うミオパチー
病因遺伝子 
MICU1 [HSA:10367] [KO:K22827]
リンク   
ICD-11: 8C73.Y
ICD-10: G71.3
OMIM: 615673
文献    
  著者
Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R, Duchen MR, Muntoni F, Sheridan E
  タイトル
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
  雑誌
Nat Genet 46:188-93 (2014)
DOI:10.1038/ng.2851
文献    
  著者
Musa S, Eyaid W, Kamer K, Ali R, Al-Mureikhi M, Shahbeck N, Al Mesaifri F, Makhseed N, Mohamed Z, AlShehhi WA, Mootha VK, Juusola J, Ben-Omran T
  タイトル
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.
  雑誌
JIMD Rep 43:79-83 (2019)
DOI:10.1007/8904_2018_107
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