A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation

Research output: Contribution to journalArticle

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Abstract

We describe a two-generation family with combined clinical features of myoclonic epilepsy, progressive external ophthalmoplegia (PEO), proximal myopathy, pigmentary retinopathy, progressive deafness, basal ganglia calcification, and ragged-red fibers in a muscle biopsy specimen. One family member died unexpectedly at age 22 years. The molecular tests revealed an A- to-G transition at nucleotide position 3243 of the mitochondrial tRNA(Leu(UUR)) gene. No one in this family bad stroke-like episodes. Although the propositus (a 28-year-old woman) had a significant number of white hairs, the percentage of mutant mtDNA in white-hair roots was not different from that in the colored-hair roots. Our findings suggest that the 3243 mutation can be associated with mixed clinical features of myoclonic epilepsy with ragged-red fibers (MERRF) and PEO and that a preferential increase in the levels of the mutant mtDNA is not related to graying of hair, and hence to the hypothesized production of premature aging of cells.

Original languageEnglish
Pages (from-to)1334-1336
Number of pages3
JournalNeurology
Volume46
Issue number5
StatePublished - May 1 1996

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MERRF Syndrome
Chronic Progressive External Ophthalmoplegia
Mitochondrial DNA
Hair
Mutation
RNA, Transfer, Leu
Myoclonic Epilepsy
Premature Aging
Retinitis Pigmentosa
Deafness
Muscular Diseases
Basal Ganglia
Nucleotides
Stroke
Biopsy
Muscles
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation. / Verma, Ashok; Moraes, Carlos T.; Shebert, Robert T.; Bradley, Walter G.

In: Neurology, Vol. 46, No. 5, 01.05.1996, p. 1334-1336.

Research output: Contribution to journalArticle

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