1. Merosin-deficient congenital muscular dystrophy in Korea.
- Author
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Chae JH, Lee JS, Hwang H, Kim KJ, Hwang YS, Park JD, Cheon JE, Kim IO, Choe GY, and Park SH
- Subjects
- Adolescent, Age of Onset, Brain abnormalities, Brain pathology, Brain physiopathology, Child, Child, Preschool, Comorbidity, Fatal Outcome, Female, Humans, Korea epidemiology, Magnetic Resonance Imaging, Male, Muscle, Skeletal metabolism, Muscle, Skeletal pathology, Muscle, Skeletal physiopathology, Muscular Dystrophies epidemiology, Nervous System Malformations epidemiology, Phenotype, Respiratory Insufficiency etiology, Retrospective Studies, Skin metabolism, Skin pathology, Skin physiopathology, Skin Abnormalities epidemiology, Syndrome, Laminin deficiency, Laminin genetics, Muscular Dystrophies congenital, Muscular Dystrophies pathology, Nervous System Malformations pathology, Skin Abnormalities pathology
- 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.
- Published
- 2009
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