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

    A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.

    Mancuso M, Filosto M, Mootha VK, Rocchi A, Pistolesi S, Murri L, DiMauro S, Siciliano G.

    Source

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

    Abstract

    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.

    PMID:
    15184630
    [PubMed - indexed for MEDLINE]

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