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

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 mothe...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Harding, A E, Holt, I J, Sweeney, M G, Brockington, M, Davis, M B
Format: Artigo
Langue:Inglês
Publié: 1992
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684296/
https://ncbi.nlm.nih.gov/pubmed/1539598
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