Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.

doi:10.1007/BF00204937

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Article

Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.

Human genetics - 1 Nov 1991

Kormann B A, Schuster H, Berninger T A, Leo-Kottler B

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is characterized by acute or subacute bilateral (usually permanent) loss of central vision, caused by neuroretinal degeneration. The maternal inheritance is explained by the mitochondrial origin of the disease. Recently, a single mitochondrial DNA (mtDNA...

Topics

Adenine
Base Sequence
DNA Mutational Analysis
DNA, Mitochondrial
Female
Germany
Guanine
Humans
Male
Molecular Sequence Data
Mutation
Optic Atrophies, Hereditary
Pedigree
Polymerase Chain Reaction

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