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Article

MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation.

Biochemical and biophysical research communications - 12 Nov 2010

Connolly Barbara S, Feigenbaum Annette S J, Robinson Brian H, Dipchand Anne I, Simon David K, Tarnopolsky Mark A

Abstract excerpt

The A to G transition mutation at position 3260 of the mitochondrial genome is usually associated with cardiomyopathy and myopathy. One Japanese kindred reported the phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) in association with the A32...

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Identifiers

PMID: 20965148
DOI: 10.1016/j.bbrc.2010.10.060

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20965148-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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