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Seventeen-year follow-up of mitochondrial myopathy and ataxia in a Chinese family: case reports and literature review.

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2025

Liu Yue, Li Hui, Wei Xing, Li Yamei, Zhou Yunyu, Zou Xuan, Sui Ruifang

Abstract excerpt

PURPOSE: To investigate the retinal phenotype and genetic features of a Chinese family with a diagnosis of mitochondrial myopathy and ataxia (MMYAT). METHODS: We conducted a 17-year follow-up of two sisters from a Chinese family and reviewed their medical and family histories. The retinal phenotype was assessed using a multi-modal imaging technique, which includes ultra-widefield (UWF) scanning laser...

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PMID: 40542878
DOI: 10.1007/s10633-025-10037-y

Genes

MSTO1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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