Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.

doi:10.1007/BF00878873

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Article

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.

Journal of neurology - 1 May 1995

Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S, Zeviani M

Abstract excerpt

We studied 22 subjects carrying the A3243G point mutation of human mitochondrial DNA (mtDNA). In 14 cases the clinical phenotype was characterized by mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), while 8 patients had chronic progressive external ophthalmoplegi...

Topics

Adolescent
Adult
Base Sequence
Case-Control Studies
Child
Child, Preschool
DNA, Mitochondrial
Female
Genotype
Humans
Infant
MELAS Syndrome
Male
Middle Aged
Ophthalmoplegia, Chronic Progressive External

Source

Open in PubMed

Identifiers

PMID: 7643139
DOI: 10.1007/BF00878873

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7643139-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Oxidative Phosphorylation

Phenotype

Point Mutation