{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T08:03:53Z","timestamp":1789718633642,"version":"4.0.1"},"reference-count":12,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,7,1]]},"abstract":"<jats:p>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 \u03b21 [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)\u2013like 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.<\/jats:p>","DOI":"10.1542\/peds.2012-3243","type":"journal-article","created":{"date-parts":[[2014,6,24]],"date-time":"2014-06-24T04:38:54Z","timestamp":1403584734000},"page":"e270-e273","source":"Crossref","is-referenced-by-count":20,"title":["Charcot-Marie-Tooth Disease Masquerading as Acute Demyelinating Encephalomyelitis-Like Illness"],"prefix":"10.1542","volume":"134","author":[{"given":"Gun-Ha","family":"Kim","sequence":"first","affiliation":[{"name":"Departments of Pediatrics, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoung Min","family":"Kim","sequence":"additional","affiliation":[{"name":"Radiology, Korea University College of Medicine, Seoul, Korea; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang-il","family":"Suh","sequence":"additional","affiliation":[{"name":"Radiology, Korea University College of Medicine, Seoul, Korea; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang-Seok","family":"Ki","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baik-Lin","family":"Eun","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2014,7,1]]},"reference":[{"issue":"2","key":"2021121000392979800_B1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.1974.tb00638.x","article-title":"Genetic and clinical aspects of Charcot-Marie-Tooth\u2019s disease.","volume":"6","author":"Skre","year":"1974","journal-title":"Clin 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