Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).

doi:10.1136/jmg.31.4.328

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Article

Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).

Journal of medical genetics - 1 Apr 1994

Pilz D, Quarrell O W, Jones E W

Abstract excerpt

DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures....

Topics

Adult
DNA, Mitochondrial
Genes, Recessive
Humans
Male
Optic Atrophies, Hereditary
Phenotype
Point Mutation
Wolfram Syndrome

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