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Article

The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.

Neuromuscular disorders : NMD - 1 Jul 2008

Horváth Rita, Reilmann Ralf, Holinski-Feder Elke, Ringelstein E Bernd, Klopstock Thomas

Abstract excerpt

While Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is typically associated with mutations in the mitochondrial tRNA(Leu) gene, mutations in complex I subunit genes of the mtDNA have emerged as a second significant cause. Here we report a novel mutation in the...

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Share to Analysis of Variance
Share to DNA, Mitochondrial
Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to NADH Dehydrogenase

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Source

Identifiers

PMID: 18590963
DOI: 10.1016/j.nmd.2008.05.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18590963-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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