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Article

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.

American journal of human genetics - 1 Apr 2003

Torroni Antonio, Campos Yolanda, Rengo Chiara, Sellitto Daniele, Achilli Alessandro, Magri Chiara, Semino Ornella, García Alberto, Jara Pilar, Arenas Joaquín, Scozzari Rosaria

Abstract excerpt

Thirty-five mitochondrial (mt) DNAs from Spain that harbor the mutation A3243G in association with either MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) syndrome or a wide array of disease phenotypes (ranging from diabetes and deafness to a mixture of chronic progressive external ophthalmoplegic symptoms and strokelike episodes) were studied by use of high-resolution...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12612863
DOI: 10.1086/373936
PMCID: PMC1180329

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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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