A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.

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.

journal_name

Neurology

journal_title

Neurology

authors

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

doi

10.1212/01.wnl.0000127608.48406.f1

subject

Has Abstract

pub_date

2004-06-08 00:00:00

pages

2119-21

issue

11

eissn

0028-3878

issn

1526-632X

journal_volume

62

pub_type

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