KEGG DISEASE: Myopathy with extrapyramidal signs

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:

OMIM:

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

LinkDB

» Japanese version

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