Format

Send to

Choose Destination
Am J Hum Genet. 1992 Mar;50(3):629-33.

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

Author information

1
University Department of Clinical Neurology, Institute of Neurology, London, England.

Abstract

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 samples showed a higher proportion of mutant mtDNA on both occasions, and this was reflected in the majority of fetal tissues, including brain and muscle. Prenatal diagnosis is a rational approach to the prevention of severe diseases caused by point mutations of mtDNA but is currently hampered by incomplete knowledge concerning the proportion of mutant mtDNA: its relationship to disease severity, how it may change during fetal and postnatal development, and its tissue distribution.

PMID:
1539598
PMCID:
PMC1684296
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for PubMed Central
Loading ...
Support Center