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Article

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.

American journal of medical genetics. Part A - 15 Feb 2009

Mehrazin Mahsa, Shanske Sara, Kaufmann Petra, Wei Ying, Coku Jorida, Engelstad Kristin, Naini Ali, De Vivo Darryl C, DiMauro Salvatore

Abstract excerpt

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), one of the most common mitochondrial multisystemic diseases, is most commonly associated with an A-to-G transition at nucleotide position 3243 (A3243G) in mitochondrial DNA. We studied 34 individuals harboring the A3243G mutation for up to 7 years; 17 had the full MELAS phenotype and 17 who were classified as "carrier relatives"...

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Identifiers

PMID: 19253345
DOI: 10.1002/ajmg.a.32703
PMCID: PMC2663596

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Source receipt: pubmed, retrieved 7 Sept 2026.

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