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Merosin-deficient congenital muscular dystrophy in Korea

DC Field Value Language
dc.contributor.authorChae, Jong-Hee-
dc.contributor.authorLee, Jin Sook-
dc.contributor.authorHwang, Hee-
dc.contributor.authorKim, Ki Joong-
dc.contributor.authorHwang, Yong Seung-
dc.contributor.authorPark, June Dong-
dc.contributor.authorCheon, Jung-Eun-
dc.contributor.authorKim, In-One-
dc.contributor.authorChoe, Ghee Young-
dc.contributor.authorPark, Sung Hye-
dc.date.accessioned2009-06-08T23:28:01Z-
dc.date.available2009-06-08T23:28:01Z-
dc.date.issued2008-08-23-
dc.identifier.citationBrain Dev 2008;31:341-6en
dc.identifier.issn0387-7604 (print)-
dc.identifier.issn1872-7131 (online)-
dc.identifier.urihttp://www.elsevier.com/locate/braindev-
dc.identifier.urihttps://hdl.handle.net/10371/4455-
dc.description.abstractCongenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, muscle weakness, joint contractures, and dystrophic changes in the muscles. Merosin-deficient CMD (MDCMD) is rare in Asian populations, but more common in Caucasians, comprising about 50% of CMDs. We report, for the first time in Korea, eight patients with merosin-deficient CMD, confirmed by immunohistochemical staining of muscle or skin samples. We also describe their wide spectrum of clinical features and neuroimaging findings. Among 35 patients diagnosed as CMD, almost 23% of them were proved to have MDCMD with typical phenotypic presentation. We infer that prevalence of MDCMD in Korea may not be as low as expected. One of the patients was diagnosed by skin biopsy, which is good alternative for diagnosis of MDCMD.en
dc.language.isoenen
dc.publisherElsevieren
dc.subjectMerosin-deficient congenital muscular dystrophyen
dc.subjectBrain MRIen
dc.subjectSkin biopsyen
dc.titleMerosin-deficient congenital muscular dystrophy in Koreaen
dc.typeArticleen
dc.contributor.AlternativeAuthor채종희-
dc.contributor.AlternativeAuthor이진숙-
dc.contributor.AlternativeAuthor황희-
dc.contributor.AlternativeAuthor김기중-
dc.contributor.AlternativeAuthor황용승-
dc.contributor.AlternativeAuthor박준동-
dc.contributor.AlternativeAuthor전정은-
dc.contributor.AlternativeAuthor김인원-
dc.contributor.AlternativeAuthor최기영-
dc.contributor.AlternativeAuthor박성혜-
dc.identifier.doi10.1016/j.braindev.2008.06.009-
dc.citation.journaltitleBrain & development-
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