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Article

A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.

Journal of human genetics - 1 Aug 2021

Nasca Alessia, Di Meo Ivano, Fellig Yakov, Saada Ann, Elpeleg Orly, Ghezzi Daniele, Edvardson Shimon

Abstract excerpt

MSTO1 is a cytoplasmic protein that modulates mitochondrial dynamics by promoting mitochondrial fusion. Mutations in the MSTO1 gene are responsible for an extremely rare condition characterized by early-onset myopathy and cerebellar ataxia. We report here two siblings from a large Ashkenazi Jewish family, presenting with a progressive neuromuscular disease characterized by ataxia and myopathy. By whole exome...

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PMID: 33612823
DOI: 10.1038/s10038-020-00897-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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