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Article

Myoclonic epilepsy with ragged-red fibers without increased lactate levels.

Pediatric neurology - 1 Jul 2009

Kimura Shigemi, Ozasa Shiro, Nakamura Kyoko, Nomura Keiko, Kosuge Hirofumi

Abstract excerpt

Myoclonic epilepsy associated with ragged-red fibers is one of the mitochondrial encephalomyopathies. Pathogenic mitochondrial DNA mutations have been identified in the mitochondrial transfer RNA (tRNA)(Lys) at positions 8344 and 8356. Characteristics of myoclonic epilepsy associated with ragged-red fibers include myoclonic epilepsy, generalized epilepsy, hearing loss, exercise intolerance, lactic acidosis, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsies, Myoclonic

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Share to Mitochondrial Encephalomyopathies

Share to Muscle, Skeletal

Share to RNA, Transfer, Lys

Source

Identifiers

PMID: 19520275
DOI: 10.1016/j.pediatrneurol.2009.02.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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