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 mo...
Topics
- Child, Preschool
- Chorionic Villi Sampling
- DNA, Mitochondrial
- Female
- Fetal Diseases
- Humans
- Intellectual Disability
- Mitochondria, Muscle
- Mothers
- Mutation
- Neuromuscular Diseases
- Pregnancy
- Prenatal Diagnosis
- Retinitis Pigmentosa
- Syndrome