ASSOCIATION OF THE MITOCHONDRIAL-8344-MERRF MUTATION WITH MATERNALLY INHERITED SPINOCEREBELLAR DEGENERATION AND LEIGH-DISEASE

Authors
HOWELL N KUBACKA I SMITH R FRERMAN F PARKS JK PARKER WD
Citation
N. Howell et al., ASSOCIATION OF THE MITOCHONDRIAL-8344-MERRF MUTATION WITH MATERNALLY INHERITED SPINOCEREBELLAR DEGENERATION AND LEIGH-DISEASE, Neurology, 46(1), 1996, pp. 219-222
Citations number
16
Categorie Soggetti
Clinical Neurology
Journal title
Neurology → ACNP
ISSN journal
00283878
Volume
46
Issue
1
Year of publication
1996
Pages
219 - 222
Database
ISI
SICI code
0028-3878(1996)46:1<219:AOTMMW>2.0.ZU;2-H
Abstract
We report previously undescribed or atypical clinical and biochemical manifestations of the mitochondrial DNA MERRF mutation at nucleotide 8 344 in members of a multigenerational family with a maternally inherit ed, highly variable neurodegenerative disorder. The more profound neur ologic abnormalities include Leigh disease, spinocerebellar degenerati on, and atypical Charcot-Marie-Tooth disease.