J Korean Neurol Assoc.  2004 Dec;22(6):680-682.

Merosin Deficient Congenital Muscular Dystrophy: A Case with Immunocytochemical Analysis

Affiliations
  • 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.

Keyword

Merosin-deficient congenital muscular dystrophy; Laminin alpha2

MeSH Terms

Biopsy
Creatine Kinase
Korea
Laminin*
Muscle Hypotonia
Muscular Dystrophies*
Neuroimaging
Creatine Kinase
Laminin
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