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Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease.

Investigative ophthalmology & visual science - 1 Mar 1993

Nakamura M, Fujiwara Y, Yamamoto M

Abstract excerpt

PURPOSE: To preliminarily examine whether mitochondrial heteroplasmy or synergism of multiple mitochondrial (mt) DNA mutations are related to the symptoms manifested in Japanese pedigrees with Leber's hereditary optic neuropathy (LHON), 90 percent of which have an mtDNA mutation at position 11778 in the NADH dehydrogenase subunit 4 (ND4) gene. This would be a first step toward clarifying why not all individuals...

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PMID: 8449667

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Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease.PMID 8449667Read ↗

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Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

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