Myoclonic epilepsy with ragged red fibers (MERRF) is usually caused by mutations in the tRNALys gene. We report a novel mutation in the tRNA Phe gene in a patient with typical, clinical, histological and biochemical features of MERRF.
A mitochondrial tRNAPhe mutation causes MERRF syndrome [Sindrome MERRF associata a mutazione del tRNAPhe]
GALLI, RENATO;MANCUSO, MICHELANGELO;IUDICE, ALFONSO;SICILIANO, GABRIELE;MURRI, LUIGI
2005-01-01
Abstract
Myoclonic epilepsy with ragged red fibers (MERRF) is usually caused by mutations in the tRNALys gene. We report a novel mutation in the tRNA Phe gene in a patient with typical, clinical, histological and biochemical features of MERRF.File in questo prodotto:
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