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Article

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

American journal of human genetics - 1 Jan 2001

Rahman S, Poulton J, Marchington D, Suomalainen A

Abstract excerpt

It is widely held that changes in the distribution of mutant mtDNAs underlie the progressive nature of mtDNA diseases, but there are few data documenting such changes. We compared the levels of 3243 A-->G mutant mtDNA in blood at birth from Guthrie cards and at the time of diagnosis in a blood DNA sample from patients with mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome....

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Source

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Identifiers

PMID: 11085913
DOI: 10.1086/316930
PMCID: PMC1234919

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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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