Charcot-Marie-Tooth Disease Masquerading as Acute Demyelinating Encephalomyelitis-Like Illness
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kim, Gun-Ha | - |
dc.contributor.author | Kim, Kyoung Min | - |
dc.contributor.author | Suh, Sang-il | - |
dc.contributor.author | Ki, Chang-Seok | - |
dc.contributor.author | Eun, Baik-Lin | - |
dc.date.accessioned | 2021-09-05T07:11:00Z | - |
dc.date.available | 2021-09-05T07:11:00Z | - |
dc.date.created | 2021-06-15 | - |
dc.date.issued | 2014-07 | - |
dc.identifier.issn | 0031-4005 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/98008 | - |
dc.description.abstract | X-linked Charcot-Marie-Tooth disease (CMTX1) is a clinically heterogeneous hereditary motor and sensory neuropathy with X-linked transmission. Common clinical manifestations of CMTX1 disease, as in other forms of Charcot-Marie-Tooth (CMT) disease, are distal muscle wasting and weakness, hyporeflexia, distal sensory disturbance, and foot deformities. Mutations in the connexin-32 gene (gap junction protein beta 1 [GJB1]) are responsible for CMTX1 disease. In this report, we describe a patient with CMTX1 disease presenting with recurrent attacks of transient and episodic acute demyelinating encephalomyelitis (ADEM)-like symptoms without previous signs of lower extremity weakness or foot deformities; the patient, as well as his asymptomatic mother, exhibited a novel GJB1 mutation (p. Met1Ile). Differential diagnosis of recurrent and transient ADEM-like illness, if unexplained, should include the possibility of CMTX1 disease. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | AMER ACAD PEDIATRICS | - |
dc.subject | WHITE-MATTER LESIONS | - |
dc.subject | TRANSIENT | - |
dc.subject | MUTATIONS | - |
dc.title | Charcot-Marie-Tooth Disease Masquerading as Acute Demyelinating Encephalomyelitis-Like Illness | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Kim, Gun-Ha | - |
dc.contributor.affiliatedAuthor | Suh, Sang-il | - |
dc.contributor.affiliatedAuthor | Eun, Baik-Lin | - |
dc.identifier.doi | 10.1542/peds.2012-3243 | - |
dc.identifier.scopusid | 2-s2.0-84904172977 | - |
dc.identifier.wosid | 000338774800034 | - |
dc.identifier.bibliographicCitation | PEDIATRICS, v.134, no.1, pp.E270 - E273 | - |
dc.relation.isPartOf | PEDIATRICS | - |
dc.citation.title | PEDIATRICS | - |
dc.citation.volume | 134 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | E270 | - |
dc.citation.endPage | E273 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Pediatrics | - |
dc.relation.journalWebOfScienceCategory | Pediatrics | - |
dc.subject.keywordPlus | WHITE-MATTER LESIONS | - |
dc.subject.keywordPlus | TRANSIENT | - |
dc.subject.keywordPlus | MUTATIONS | - |
dc.subject.keywordAuthor | Charcot-Marie-Tooth disease | - |
dc.subject.keywordAuthor | connexin 32 | - |
dc.subject.keywordAuthor | encephalomyelitis | - |
dc.subject.keywordAuthor | acute disseminated | - |
dc.subject.keywordAuthor | peripheral nervous system diseases | - |
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