Cited 8 times in
Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers
DC Field | Value | Language |
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dc.contributor.author | 김세훈 | - |
dc.contributor.author | 이영목 | - |
dc.date.accessioned | 2018-07-20T08:15:54Z | - |
dc.date.available | 2018-07-20T08:15:54Z | - |
dc.date.issued | 2017 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/161026 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Frontiers Research Foundation | - |
dc.relation.isPartOf | FRONTIERS IN NEUROLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Pathology | - |
dc.contributor.googleauthor | Sun Yeong Park | - |
dc.contributor.googleauthor | Se Hoon Kim | - |
dc.contributor.googleauthor | Young-Mock Lee | - |
dc.identifier.doi | 10.3389/fneur.2017.00520 | - |
dc.contributor.localId | A00610 | - |
dc.contributor.localId | A02955 | - |
dc.relation.journalcode | J02996 | - |
dc.identifier.eissn | 1664-2295 | - |
dc.identifier.pmid | 29033892 | - |
dc.subject.keyword | mitochondria | - |
dc.subject.keyword | molecular diagnosis | - |
dc.subject.keyword | muscle | - |
dc.subject.keyword | myoclonus epilepsy with ragged-red fibers | - |
dc.subject.keyword | pathology | - |
dc.subject.keyword | ragged-red fibers | - |
dc.contributor.alternativeName | Kim, Se Hoon | - |
dc.contributor.alternativeName | Lee, Young Mock | - |
dc.contributor.affiliatedAuthor | Kim, Se Hoon | - |
dc.contributor.affiliatedAuthor | Lee, Young Mock | - |
dc.citation.volume | 8 | - |
dc.citation.startPage | 520 | - |
dc.identifier.bibliographicCitation | FRONTIERS IN NEUROLOGY, Vol.8 : 520, 2017 | - |
dc.identifier.rimsid | 60917 | - |
dc.type.rims | ART | - |
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