A Case of Leber's Hereditary Optic Nouropathy Showing 11778 Point Mutation of Mitochondrial DNA
| Autor: | Seung Yeop Lee, Jung Sang Hah, Jun Lee, Seung Kwon Park, Yun Seok Jung, Mee Yeoung Park, Se Jin Lee |
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| Rok vydání: | 1999 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities Homoplasmy Mitochondrial DNA Mutation genetic structures business.industry Guanine Point mutation Leber's hereditary optic neuropathy medicine.disease medicine.disease_cause eye diseases Optic neuropathy chemistry.chemical_compound chemistry medicine Optic nerve business |
| Zdroj: | Yeungnam University Journal of Medicine. 16:114 |
| ISSN: | 2234-8042 1225-7737 |
| DOI: | 10.12701/yujm.1999.16.1.114 |
| Popis: | Leber's hereditary optic neuropathy(LHON) is an optic nerve disease that causes blindness and is associated with maternally inherited mitochondrial DNA(mt DNA) mutations. The most common mitochondrial DNA mutation among LHON patients is a point mutation at the nucleotide 11778 in the subunit 4 of complex I. In one 45-year old male LHON patient with bilateral optic neuropathy. we investigated the presence of a point mutation of mitochondrial DNA and identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide point 11778. |
| Databáze: | OpenAIRE |
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