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Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches.

Human mutation - 1 Feb 2009

Bandelt Hans-Jürgen, Salas Antonio, Taylor Robert W, Yao Yong-Gang

Abstract excerpt

Given its relative ease, screening the entire mitochondrial DNA (mtDNA) for heteroplasmic or novel homoplasmic mutations has become part of the routine diagnostic workup for the molecular geneticist confronted with a disease case exhibiting clinical and biochemical features of mitochondrial dysfunction. "Novelty" of a given mtDNA variant is most often equated with nonregistration in the extensive MITOMAP database...

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PMID: 18800376
DOI: 10.1002/humu.20846

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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