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https://www.readbyqxmd.com/read/12464729/lightning-strikes-twice-leber-hereditary-optic-neuropathy-families-with-two-pathogenic-mtdna-mutations
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Neil Howell, Neil R Miller, David A Mackey, Anthony Arnold, Corinna Herrnstadt, Isla M Williams, Iwona Kubacka
OBJECTIVE: To report the clinical and mitochondrial genetic analyses of two families, each of which carries both the 11778 and 14484 Leber hereditary optic neuropathy (LHON) mutations in mitochondrial DNA. METHODS: In addition to detailed clinical histories, the complete sequence of the mitochondrial DNA (mtDNA) from each family was determined. RESULTS: A small Australian LHON family (Vic20) and a family from the United States carry the 11778 and 14484 LHON mutations...
December 2002: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
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