Merosin Deficient Congenital Muscular Dystrophy: A Case with Immunocytochemical Analysis

J Korean Neurol Assoc > Volume 22(6); 2004 > Article

Journal of the Korean Neurological Association 2004;22(6): 680-682.

Merosin 결핍 선천성근이영양증 1예

채경민, 강성웅* 김태승† 최영철

연세대학교 의과대학 신경과학교실, 재활의학과교실*, 병리학교실†

Merosin Deficient Congenital Muscular Dystrophy: A Case with Immunocytochemical Analysis

Kyoung-Min Chae

Departments of Neurology, Rehabilitation Medicine* and Pathology† Brain Korea 21 Project for Medicine, Seoul; Yonsei University College of Medicine, Seoul, Korea

Abstract

Primary merosin (laminin α2 chain)-deficient congenital muscular dystrophy (CMD) is a uncommon and severe form of CMD, which is caused by the mutations in the laminin α2 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. Key Words: Merosin-deficient congenital muscular dystrophy, Laminin α2