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Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.

CNS neuroscience & therapeutics - 1 Jan 2019

Dong Hai-Lin, Ma Yin, Li Quan-Fu, Du Yi-Chu, Yang Lu, Chen Sheng, Wu Zhi-Ying

Abstract excerpt

AIM: To characterize the mutations in mitochondrial DNA (mtDNA) and mitochondrion-related nuclear genes (nDNA), and clinical features in Chinese patients with mitochondrial ataxia. METHODS: Targeted next-generation sequencing (NGS) technology was performed to screen the whole mtDNA sequence and nDNA genes in a cohort of 33 unrelated ataxia patients. RESULTS: A total of 5 pedigrees were finally genetically...

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PMID: 29756269
DOI: 10.1111/cns.12972
PMCID: PMC6436592

Genes

PDHA1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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