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
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.