A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
A five-generation Hispanic family expressing maternally transmitted Leber hereditary optic neuropathy and/or early-onset dystonia associated with bilateral basal ganglia lesions was studied. Buffy coat mitochondrial DNA (mtDNA) from a severely affected child was amplified by the polymerase chain rea...
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| Publié dans: | Proc Natl Acad Sci U S A |
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| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
National Academy of Sciences
1994
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC44167/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8016139/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.13.6206 |
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