Molecular diagnosis of myoclonus epilepsy associated with ragged-red fibers syndrome in the absence of ragged red fibers

Sun Yeong Park, SeHoon Kim, Young Mock Lee

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In these circumstances, MERRF can only be diagnosed using genetic analyses. The symptoms, pathological findings, and imaging results being age dependent, we can construct a protocol based on these characteristics to understand the disease's natural course and to manage patients more effectively. The absence of RRFs should not preclude a MERRF diagnosis.

Original languageEnglish
Article number520
JournalFrontiers in Neurology
Volume8
Issue numberSEP
DOIs
Publication statusPublished - 2017 Sep 29

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Myoclonic Epilepsy
Slow-Twitch Muscle Fibers
Mitochondrial Diseases
Phenotype
Biopsy

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

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abstract = "Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In these circumstances, MERRF can only be diagnosed using genetic analyses. The symptoms, pathological findings, and imaging results being age dependent, we can construct a protocol based on these characteristics to understand the disease's natural course and to manage patients more effectively. The absence of RRFs should not preclude a MERRF diagnosis.",
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Molecular diagnosis of myoclonus epilepsy associated with ragged-red fibers syndrome in the absence of ragged red fibers. / Park, Sun Yeong; Kim, SeHoon; Lee, Young Mock.

In: Frontiers in Neurology, Vol. 8, No. SEP, 520, 29.09.2017.

Research output: Contribution to journalArticle

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