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Article

Identification of m.3243A>G mitochondrial DNA mutation in patients with cerebellar ataxia.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Oct 2023

Liao Nai-Yi, Lai Kuan-Lin, Liao Yi-Chu, Hsiao Cheng-Tsung, Lee Yi-Chung

Abstract excerpt

BACKGROUND: The mitochondrial DNA m.3243A>G mutation can affect mitochondrial function and lead to a wide phenotypic spectrum, including mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, diabetes mellitus, hearing impairment, cardiac involvement, epilepsy, migraine, myopathy, and cerebellar ataxia. However, m.3243A>G has been rarely reported in patients with cerebellar...

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Identifiers

PMID: 37311680
DOI: 10.1016/j.jfma.2023.05.031

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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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