title: MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.
abstract: A 48-year-old man presented with a complex phenotype of myoclonus epilepsy with ragged-red fibers (MERRF) syndrome and Kearns-Sayre syndrome (KSS), which included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy, bifascicular heart block, and ragged-red fibers. The m.3291T>C mutation in the tRNA(Leu(UUR)) gene was found with 92% heteroplasmy in muscle. This mutation has been reported with MELAS, myopathy, and deafness with cognitive impairment. This is the first description with a MERRF/KSS syndrome.
authors: Department of Neurology, Columbia University Medical Center, 630 West 168th Street, P&S 4-423, New York, New York 10032, USA.
authors: Valentina
authors: V
authors: Emmanuele
authors: David S
authors: DS
authors: Silvers
authors: Evangelia
authors: E
authors: Sotiriou
authors: Kurenai
authors: K
authors: Tanji
authors: Salvatore
authors: S
authors: DiMauro
authors: Michio
authors: M
authors: Hirano
mesh_terms: D001706:Biopsy; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D015897:Comorbidity; D004272:DNA, Mitochondrial / Q000235:genetics*; D004562:Electrocardiography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D034381:Hearing Loss / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D017243:MERRF Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D052097:Quadriceps Muscle / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial