Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease.
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 maternally inherited, highly variable neurodegenerative disorder. The more profound neurologic abnormalities include Leigh disease, spinocerebellar degeneration, and atypical Charcot-Marie-Tooth disease.
Howell
N
N
Department of Radiation Therapy, University of Texas Medical Branch, Galveston 77555-0656, USA.
Kubacka
I
I
Smith
R
R
Frerman
F
F
Parks
J K
JK
Parker
W D
WD
D000328:Adult; D000368:Aged; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000235:genetics*; D017243:MERRF Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000235:genetics*