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Neurology. 2004 Jun 8;62(11):2119-21.

A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.

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Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.


A woman with typical features of myoclonic epilepsy with ragged red fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the mitochondrial DNA tRNA phenylalanine gene. The mutation was heteroplasmic (91%) in muscle but undetectable in accessible tissues from the patient and her maternal relatives. Single-fiber PCR analysis showed that the proportion of mutant genomes was higher in cytochrome c oxidase (COX)-negative ragged red fibers (RRFs) than in COX-positive non-RRFs. This report shows that typical MERRF syndrome is not always associated with tRNA lysine mutations.

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