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Article

Genetic counseling in Leber hereditary optic neuropathy (LHON).

Acta ophthalmologica Scandinavica - 1 Feb 2002

Huoponen Kirsi, Puomila Anu, Savontaus Marja-Liisa, Mustonen Eila, Kronqvist Elina, Nikoskelainen Eeva

Abstract excerpt

PURPOSE: To demonstrate the importance of mitochondrial DNA (mtDNA) analysis in the diagnosis of Leber hereditary optic neuropathy (LHON) and illustrate the difficulties in genetic counseling of the disease. PARTICIPANTS AND METHODS: Ophthalmological and molecular genetic study of one affected and three unaffected members from a family with heteroplasmic ND1/3460 mtDNA mutation associated with LHON. RESULTS: The...

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PMID: 11906302
DOI: 10.1034/j.1600-0420.2002.800108.x

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