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Article

Phenotypes and mitochondrial DNA substitutions in families with A3243G mutation.

Acta neurologica Scandinavica - 1 Aug 2002

Morovvati S, Nakagawa M, Sato Y, Hamada K, Higuchi I, Osame M

Abstract excerpt

OBJECTIVE: To clarify the relationship between mitochondrial DNA (mtDNA) sequence variations and phenotypes in patients with A3243G mutation. MATERIALS AND METHODS: We studied whole mtDNA sequences in two families with A3243G mutation and characteristic clinical features. Two brothers in Family 1 had shown thiamine deficiency and mitochondrial myopathy without central nervous system involvement. In Family 2, a...

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Identifiers

PMID: 12100370
DOI: 10.1034/j.1600-0404.2002.01172.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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