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Article

Gene dosage effect in one family with myoclonic epilepsy and ragged-red fibers (MERRF).

Acta neurologica Scandinavica - 1 Aug 1997

Arpa J, Campos Y, Gutiérrez-Molina M, Martin-Casanueva M A, Cruz-Martínez A, Pérez-Conde M C, López-Pajares R, Morales M C, Tatay J, Lacasa T, Barreiro P, Arenas J

Abstract excerpt

OBJECTIVES: We analyzed the percentage of mitochondrial DNA (mtDNA) heteroplasmy in blood samples of 13 individuals belonging to a three family generation of myoclonic epilepsy with ragged-red fibers (MERRF) and compared the 5 affected patients and the 8 unaffected relatives. MATERIAL AND METHODS: DNA was extracted from blood and muscle of the proband and from blood of 12 maternal relatives. A PCR restriction...

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PMID: 9272179
DOI: 10.1111/j.1600-0404.1997.tb00241.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Gene dosage effect in one family with myoclonic epilepsy and ragged-red fibers (MERRF).PMID 9272179Read ↗

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Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).Semantic proximity Read ↗

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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.Semantic proximity Read ↗

Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers.Semantic proximity Read ↗

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.Semantic proximity Read ↗

Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome.Semantic proximity Read ↗

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