Neuropediatrics 2011; 42(04): 148-151
DOI: 10.1055/s-0031-1283167
Short Communication
Georg Thieme Verlag Stuttgart · New York

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

A. Hahn
1  University of Giessen, Department of Neuropediatrics, Giessen, Germany
,
A. Schänzer
2  University of Giessen, Institute of Neuropathology, Giessen, Germany
,
B.A. Neubauer
1  University of Giessen, Department of Neuropediatrics, Giessen, Germany
,
E. Gizewski
3  University of Giessen, Department of Neuroradiology, Giessen, Germany
,
U. Ahting
4  Institute of Clinical Chemistry, Molecular Diagnostics, and Mitochondrial Genetics, Munich, Germany
,
B. Rolinski
5  Elblab Zentrum für LaborMedizin, Elblandkliniken, Riesa, Germany
› Author Affiliations
Further Information

Publication History

received 02 March 2011

accepted 27 June 2011

Publication Date:
15 July 2011 (eFirst)

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.