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Merosin-deficient congenital muscular dystrophy in Korea

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Authors
Chae, Jong-Hee; Lee, Jin Sook; Hwang, Hee; Kim, Ki Joong; Hwang, Yong Seung; Park, June Dong; Cheon, Jung-Eun; Kim, In-One; Choe, Ghee Young; Park, Sung Hye
Issue Date
2008-08-23
Publisher
Elsevier
Citation
Brain Dev 2008;31:341-6
Keywords
Merosin-deficient congenital muscular dystrophy; Brain MRI; Skin biopsy
Abstract
Congenital 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.
ISSN
0387-7604 (print)1872-7131 (online)
Language
English
URI
http://www.elsevier.com/locate/braindev
http://hdl.handle.net/10371/4455
DOI
https://doi.org/10.1016/j.braindev.2008.06.009
https://doi.org/10.1016/j.braindev.2008.06.009
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College of Medicine/School of Medicine (의과대학/대학원)Pathology (병리학전공)Journal Papers (저널논문_병리학전공)
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