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Article

Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.

Brain & development - 1 Jun 2013

Monden Yukifumi, Mori Masato, Kuwajima Mari, Goto Tamako, Yamagata Takanori, Momoi Mariko Y

Abstract excerpt

We report the case of a boy with myoclonic epilepsy with ragged-red fibers (MERRF) who had astatic seizures since 2 years of age and later developed ataxia, absence seizures, and myoclonus. Almost homoplasmic A8344G mutation of mitochondrial DNA (m.8344A>G mutation) was detected in lymphocytes. He developed late-onset Leigh syndrome (LS) when he contracted pneumonia at 6 years. He developed bulbar palsy and deep...

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Source

Identifiers

PMID: 22981260
DOI: 10.1016/j.braindev.2012.08.006

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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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Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.PMID 22981260Read ↗

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

Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.Semantic proximity Read ↗

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Lipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome.Semantic proximity Read ↗

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