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Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy |
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| Authors: | Carla Carducci Vincenzo Leuzzi Massimo Scuderi Anna Maria De Negri Corrado Balacco Gabrieli Italo Antonozzi Alfredo Pontecorvi |
| Institution: | (1) Section of Genetic and Metabolic Diseases, Department of Experimental Medicine, University  La Sapienza of Rome, Via dei Sabelli, 108, I-00185 Rome, Italy;(2) Institute of Child Neuropsychiatry, University La Sapienza, Rome, Italy;(3) Institute of Ophthalmology, University La Sapienza, Rome, Italy |
| Abstract: | Summary Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the exclusion of the father, and was present in a homoplasmic fashion, despite the phenotypic heterogeneity of disease presentation among family members. |
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