Merosin Deficient Congenital Muscular Dystrophy: A Case with Immunocytochemical Analysis.
- Author:
Kyoung Min CHAE
1
;
Seong Woong KANG
;
Tai Seung KIM
;
Young Chul CHOI
Author Information
1. Department of Rehabilitation Medicine, Brain Korea 21 Project for Medicine, Yonsei University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Merosin-deficient congenital muscular dystrophy;
Laminin alpha2
- MeSH:
Biopsy;
Creatine Kinase;
Korea;
Laminin*;
Muscle Hypotonia;
Muscular Dystrophies*;
Neuroimaging
- From:Journal of the Korean Neurological Association
2004;22(6):680-682
- CountryRepublic of Korea
- Language:English
-
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.
