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Article

Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Dec 2002

Howell Neil, Miller Neil R, Mackey David A, Arnold Anthony, Herrnstadt Corinna, Williams Isla M, Kubacka Iwona

Abstract excerpt

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...

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Identifiers

PMID: 12464729
DOI: 10.1097/00041327-200212000-00002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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