Association of the 11778 mitochondrial DNA mutation and demyelinating disease.

Abstract excerpt

Leber's hereditary optic neuropathy is a maternally inherited disorder most commonly associated with a mitochondrial DNA mutation at nucleotide position 11778. We report four patients, including a man and a black woman, with the 11778 mutation, who have optic neuropathy and clinical or paraclinical evidence of demyelinating disease. These data support an association of this mitochondrial DNA mutation with...

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