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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Harding, A E, Holt, I J, Sweeney, M G, Brockington, M, Davis, M B
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1992
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684296/
https://ncbi.nlm.nih.gov/pubmed/1539598
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk