J Korean Neurol Assoc.
2004 Dec;22(6):680-682.
Merosin Deficient Congenital Muscular Dystrophy: A Case with Immunocytochemical Analysis
- Affiliations
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- 1Department of Rehabilitation Medicine, Brain Korea 21 Project for Medicine, Yonsei University College of Medicine, Seoul, Korea.
- 2Department of Pathology, Brain Korea 21 Project for Medicine, Yonsei University College of Medicine, Seoul, Korea.
- 3Department of Neurology, Brain Korea 21 Project for Medicine, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yumc.yonsei.ac.kr
Abstract
- Primary merosin (laminin alpha2 chain)-deficient congenital muscular dystrophy (CMD) is a uncommon and severe form of CMD, which is caused by the mutations in the laminin alpha2 chain gene. It is an autosomal recessively inherited form of muscular dystrophy that is associated with severe neonatal hypotonia, a high serum creatine kinase level, and abnormal brain imaging without intellectual dysfunction. We report a case of merosin-deficient CMD confirmed by the immunocytochemical analysis of the frozen muscle biopsy. This is the first case of merosin-deficient CMD in Korea.
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