Article
Ethambutol toxicity exacerbating the phenotype of CMT2A2.
Muscle & nerve - 1 Jul 2013
Fonkem Ekokobe, Skordilis Monica A, Binkley Elaine M, Raymer David S, Epstein Avrom, Arnold W David, Kissel John T, Lawson Victoria H
Abstract excerpt
INTRODUCTION: CMT2A2 is associated with mutations in the mitofusin 2 gene, which encodes a protein involved in mitochondrial fusion. Ethambutol is an antimycobacterial agent associated with toxic optic neuropathies. Ethambutol-induced optic neuropathy occurs in patients with mutations in a related fusion gene, OPA1, which is responsible for autosomal dominant optic atrophy. METHODS: We describe a patient with...
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