MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
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Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29.
Acta Neuropathol. 2019.
PMID: 31463572
Free PMC article.