MERRF and Kearns-Sayre Overlap Syndrome Due to the Mitochondrial DNA M.3291T>C Mutation

Overview

Journal Muscle Nerve

Date 2011 Oct 15

PMID 21996807

Citations 10

Authors

Valentina Emmanuele

David S Silvers

Evangelia Sotiriou

Kurenai Tanji

Salvatore DiMauro

Michio Hirano

Affiliations

Soon will be listed here.

Abstract

A 48-year-old man presented with a complex phenotype of myoclonus epilepsy with ragged-red fibers (MERRF) syndrome and Kearns-Sayre syndrome (KSS), which included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy, bifascicular heart block, and ragged-red fibers. The m.3291T>C mutation in the tRNA(Leu(UUR)) gene was found with 92% heteroplasmy in muscle. This mutation has been reported with MELAS, myopathy, and deafness with cognitive impairment. This is the first description with a MERRF/KSS syndrome.

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