PT  - JOURNAL ARTICLE
AU  - Howell, N.
AU  - Kubacka, I.
AU  - Smith, R.
AU  - Frerman, F.
AU  - Parks, J. K.
AU  - Parker, W. D.
TI  - Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease
AID  - 10.1212/WNL.46.1.219
DP  - 1996 Jan 01
TA  - Neurology
PG  - 219--222
VI  - 46
IP  - 1
4099  - http://n.neurology.org/content/46/1/219.short
4100  - http://n.neurology.org/content/46/1/219.full
SO  - Neurology1996 Jan 01; 46
AB  - 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