Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease
- 1 January 1996
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 46 (1) , 219-222
- https://doi.org/10.1212/wnl.46.1.219
Abstract
Article abstract-We report previously undescribed or atypical clinical and biochemical manifestations of the mitochondrial DNA MERRF mutation at nucleotide 8344 in members of a multigenerational family with a maternally inherited, highly variable neurodegenerative disorder. The more profound neurologic abnormalities include Leigh disease, spinocerebellar degeneration, and atypical Charcot-Marie-Tooth disease.Keywords
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