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Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers

Authors
 Sun Yeong Park  ;  Se Hoon Kim  ;  Young-Mock Lee 
Citation
 Frontiers in Neurology, Vol.8 : 520, 2017 
Journal Title
 Frontiers in Neurology 
Issue Date
2017
Keywords
mitochondria ; molecular diagnosis ; muscle ; myoclonus epilepsy with ragged-red fibers ; pathology ; 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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/161026
DOI
10.3389/fneur.2017.00520
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)
Yonsei Authors
김세훈(Kim, Se Hoon)
이영목(Lee, Young Mock)
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