title: MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).
abstract: Nearly all patients affected by myoclonic epilepsy with ragged-red fibres (MERRF) harbour a mutation in the mitochondrial transfer RNALys gene. We report on an 8-year-old girl with clinical and diagnostic features of MERRF. After excluding one of the common mutations associated with MERRF, a complete sequence analysis of the mitochondrial genome revealed an m.4284 G>A mutation in the mitochondrial transfer RNAIle gene. This mutation has only once been described in a family with variable clinical symptoms, but has not yet been linked to MERRF. This case extends the mutational spectrum associated with the MERRF phenotype, and demonstrates the importance of performing a comprehensive mutational analysis in patients with suspected mitochondrial disease when common mutations have been ruled out.
authors.affiliation: Department of Neuropediatrics, University of Giessen, Giessen, Germany. andreas.hahn@paediat.med.uni-giessen.de
authors.forename: A
authors.initials: A
authors.lastname: Hahn
authors.forename: A
authors.initials: A
authors.lastname: Schänzer
authors.forename: B A
authors.initials: BA
authors.lastname: Neubauer
authors.forename: E
authors.initials: E
authors.lastname: Gizewski
authors.forename: U
authors.initials: U
authors.lastname: Ahting
authors.forename: B
authors.initials: B
authors.lastname: Rolinski
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D004569:Electroencephalography; D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D006801:Humans; D017243:MERRF Syndrome / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D012355:RNA, Transfer, Ile / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D012355:RNA, Transfer, Ile; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV