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Article

The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.

American journal of human genetics - 1 Apr 1998

Chomyn A

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Share to DNA, Mitochondrial
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 9529371
DOI: 10.1086/301813
PMCID: PMC1377051

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.PMID 9529371Read ↗

Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red FibersSemantic proximity Read ↗

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

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?Semantic proximity Read ↗

MERRF: a model disease for understanding the principles of mitochondrial genetics.Semantic proximity Read ↗

A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.Semantic proximity Read ↗

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Mitochondrial disease and epilepsy.Semantic proximity Read ↗

Myoclonus in mitochondrial disordersSemantic proximity Read ↗

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.Semantic proximity Read ↗

Mitochondrial encephalomyopathies: an update.Semantic proximity Read ↗

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.Semantic proximity Read ↗

Mitochondrial dysfunction and myoclonic epilepsy: cause or effect or both?Semantic proximity Read ↗

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