KEGG DISEASE: Mitochondrial myopathy and ataxia

DISEASE: Mitochondrial myopathy and ataxia

Entry

H02704                      Disease

Name

Mitochondrial myopathy and ataxia

Description

Mitochondrial myopathy and ataxia (MMYAT) is a rare disease characterized by early-onset myopathy and cerebellar ataxia. It has been reported that mutations in MSTO1 cause this disease. MSTO1 is a soluble cytoplasmic protein that regulates mitochondrial dynamics by promoting mitochondrial fusion.

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
     H02704  Mitochondrial myopathy and ataxia

Gene

MSTO1 [HSA:55154] [KO:K27320]

Other DBs

ICD-11:

8C73.Y

OMIM:

617675

Reference

PMID:31463572

Authors

Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Topf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bonnemann CG, Shutt TE

Title

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Journal

Acta Neuropathol 138:1013-1031 (2019)
DOI:10.1007/s00401-019-02059-z

Reference

PMID:28554942

Authors

Gal A, Balicza P, Weaver D, Naghdi S, Joseph SK, Varnai P, Gyuris T, Horvath A, Nagy L, Seifert EL, Molnar MJ, Hajnoczky G

Title

MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans.

Journal

EMBO Mol Med 9:967-984 (2017)
DOI:10.15252/emmm.201607058

Reference

PMID:36035138

Authors

Liu L, Su R, Huang P, Li X, Xiong J, Xiao Y, Mao D, Liu L

Title

Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants.

Journal

Front Genet 13:947886 (2022)
DOI:10.3389/fgene.2022.947886

LinkDB

» Japanese version

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