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

Acta Neuropathol 138:1013-1031 (2019)
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Gal A, Balicza P, Weaver D, Naghdi S, Joseph SK, Varnai P, Gyuris T, Horvath A, Nagy L, Seifert EL, Molnar MJ, Hajnoczky G

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

EMBO Mol Med 9:967-984 (2017)
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Liu L, Su R, Huang P, Li X, Xiong J, Xiao Y, Mao D, Liu L

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

Front Genet 13:947886 (2022)
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