Učitavanje...
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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| Glavni autori: | , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1992
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1684296/ https://ncbi.nlm.nih.gov/pubmed/1539598 |
| Oznake: |
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