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Leber’s hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation
We report here the clinical, genetic and molecular characterization of four Chinese families with Leber’s hereditary optic neuropathy (LHON). There were variable severity and age-of-onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment...
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| 主要な著者: | , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2009
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2905379/ https://ncbi.nlm.nih.gov/pubmed/19324017 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2009.03.097 |
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