Journal article

Publication year: 2011

Pages: 148-151

Journal: Neuropediatrics

Volume number: 42

Issue number: 4

ISSN: 0174-304X

DOI Link: https://doi.org/10.1055/s-0031-1283167

Publisher: Thieme Publishing / Georg Thieme Verlag

Abstract: 
Nearly all patients affected by myoclonic epilepsy with ragged-red fibres (MERRF) harbour a mutation in the mitochondrial transfer RNA(Lys) 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 RNA(Ile) 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.

Harvard Citation style: Hahn, A., Schaenzer, A., Neubauer, B., Gizewski, E., Ahting, U. and Rolinski, B. (2011) MERRF-Like Phenotype Associated with a Rare Mitochondrial tRNA^Ile Mutation (m.4284 G > A), Neuropediatrics, 42(4), pp. 148-151. https://doi.org/10.1055/s-0031-1283167

APA Citation style: Hahn, A., Schaenzer, A., Neubauer, B., Gizewski, E., Ahting, U., & Rolinski, B. (2011). MERRF-Like Phenotype Associated with a Rare Mitochondrial tRNA^Ile Mutation (m.4284 G > A). Neuropediatrics. 42(4), 148-151. https://doi.org/10.1055/s-0031-1283167