title: Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease.
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 maternally inherited, highly variable neurodegenerative disorder. The more profound neurologic abnormalities include Leigh disease, spinocerebellar degeneration, and atypical Charcot-Marie-Tooth disease.
authors.affiliation: Department of Radiation Therapy, University of Texas Medical Branch, Galveston 77555-0656, USA.
authors.forename: N
authors.initials: N
authors.lastname: Howell
authors.forename: I
authors.initials: I
authors.lastname: Kubacka
authors.forename: R
authors.initials: R
authors.lastname: Smith
authors.forename: F
authors.initials: F
authors.lastname: Frerman
authors.forename: J K
authors.initials: JK
authors.lastname: Parks
authors.forename: W D
authors.initials: WD
authors.lastname: Parker
mesh_terms: 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*