Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy.

doi:10.1080/02713689808951221

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Article

Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy.

Current eye research - 1 Apr 1998

Mashima Y, Yamada K, Wakakura M, Kigasawa K, Kudoh J, Shimizu N, Oguchi Y

Abstract excerpt

PURPOSE: To investigate the incidence and clinical significance of primary or proposed secondary mitochondrial DNA (mtDNA) mutations in Japanese patients with Leber's hereditary optic neuropathy (LHON). METHODS: Blood samples from the 80 unrelated Japanese patients with bilateral optic atrophy we...

Topics

Adolescent
Adult
Child
Child, Preschool
DNA, Mitochondrial
Female
Gene Frequency
Humans
Japan
Male
Middle Aged
Mutation
Optic Atrophies, Hereditary
Visual Acuity

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