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

Sun Yeong Park; Se Hoon Kim; Young Mock Lee

doi:10.3389/fneur.2017.00520

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

Sun Yeong Park, Se Hoon Kim, Young Mock Lee

Department of Pathology

Research output: Contribution to journal › Article › peer-review

6 Citations (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 language	English
Article number	520
Journal	Frontiers in Neurology
Volume	8
Issue number	SEP
DOIs	https://doi.org/10.3389/fneur.2017.00520
Publication status	Published - 2017 Sept 29

Bibliographical note

Funding Information:
This research was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science, ICT and Future Planning (2015-31-0580 and 2015-31-0172).

Publisher Copyright:
© 2017 Park, Kim and Lee.

All Science Journal Classification (ASJC) codes

Neurology
Clinical Neurology

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10.3389/fneur.2017.00520

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title = "Molecular diagnosis of myoclonus epilepsy associated with ragged-red fibers syndrome in the absence of ragged red fibers",

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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N2 - 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.

AB - 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

Abstract

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