KEGG   DISEASE: Myopathy with extrapyramidal signs
Entry
H02447                      Disease                                
Name
Myopathy with extrapyramidal signs
Description
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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C73  Mitochondrial myopathies
     H02447  Myopathy with extrapyramidal signs
Gene
MICU1 [HSA:10367] [KO:K22827]
Other DBs
ICD-11: 8C73.Y
ICD-10: G71.3
OMIM: 615673
Reference
  Authors
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
  Title
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
  Journal
Nat Genet 46:188-93 (2014)
DOI:10.1038/ng.2851
Reference
  Authors
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
  Title
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.
  Journal
JIMD Rep 43:79-83 (2019)
DOI:10.1007/8904_2018_107

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