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Article

Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T > G.

Journal of inherited metabolic disease - 1 Jun 2007

Pettman R, Hurley T, Addis J, Robinson B, Scott H, Kronick J B

Abstract excerpt

The mtDNA mutation 8993T > G is associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) and Leigh syndrome. There are few reported cases of prenatal testing for mtDNA disorders. Specifically for 8993T > G, there are six cases in which prenatal diagnosis has been reported. We describe prenatal diagnosis in a 36-year-old G3P1 woman with 33% heteroplasmy in white blood cells. She had a...

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Identifiers

PMID: 17508265
DOI: 10.1007/s10545-007-0460-y

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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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