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Article

Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

American journal of human genetics - 1 Mar 1992

Harding A E, Holt I J, Sweeney M G, Brockington M, Davis M B

Abstract excerpt

We have previously described a family with a neurological syndrome comprising neurogenic muscle weakness, ataxia, retinitis pigmentosa, and variable sensory neuropathy, seizures, and mental retardation or dementia. This is associated with a heteroplasmic point mutation of mtDNA at bp 8993. The mother of a severely affected child underwent prenatal diagnosis in two further pregnancies. Analysis of chorionic villus...

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Identifiers

PMID: 1539598
PMCID: PMC1684296

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

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