MERRF-Like Phenotype Associated with a Rare Mitochondrial tRNA(Ile) Mutation (m.4284 G > A)

作者：Hahn A^*; Schaenzer A; Neubauer B A; Gizewski E; Ahting U; Rolinski B

来源：Neuropediatrics, 2011, 42(4): 148-151.

DOI：10.1055/s-0031-1283167

• mitochondrial disorder
• ragged-red fibres
• progressive myoclonic epilepsy
• MERRF
• mtDNA-mutation

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.

• 出版日期2011-8