title: Merosin-deficient congenital muscular dystrophy in Korea.
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.
authors: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
authors: Jong-Hee
authors: JH
authors: Chae
authors: Jin Sook
authors: JS
authors: Lee
authors: Hee
authors: H
authors: Hwang
authors: Ki Joong
authors: KJ
authors: Kim
authors: Yong Seung
authors: YS
authors: Hwang
authors: June Dong
authors: JD
authors: Park
authors: Jung-Eun
authors: JE
authors: Cheon
authors: In-One
authors: IO
authors: Kim
authors: Ghee Young
authors: GY
authors: Choe
authors: Sung Hye
authors: SH
authors: Park
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001921:Brain / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007723:Korea / Q000453:epidemiology; D007797:Laminin / Q000172:deficiency* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000453:epidemiology / Q000473:pathology*; D009421:Nervous System Malformations / Q000453:epidemiology / Q000473:pathology*; D010641:Phenotype; D012131:Respiratory Insufficiency / Q000209:etiology; D012189:Retrospective Studies; D012867:Skin / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D012868:Skin Abnormalities / Q000453:epidemiology / Q000473:pathology*; D013577:Syndrome
chemical_list: D007797:Laminin