Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease-Reference-Cited by-同舟云学术

Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease

Published:1996-01 Issue:1 Volume:46 Page:219-222
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Howell N.,Kubacka I.,Smith R.,Frerman F.,Parks J. K.,Parker W. D.

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.NEUROLOGY 1996;46: 219-222

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference16 articles.

1. Neuropathology of Mitochondrial Encephalomyopathies Due to Mitochondrial DNA Defects

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