|
KMID : 0361420100340040471
|
|
Journal of Korean Academy of Rehabilitation Medicine
2010 Volume.34 No. 4 p.471 ~ p.474
|
|
|
Merosin Negative Congenital Muscular Dystrophy Who Was Misdiagnosed Initially as Cerebral Palsy - A case report -
|
|
Kim Soo-Yeon
Shin Yong-Beom
Shin Myung-Jun
Kim Sung-Nyun
Kim Wan
|
|
|
Abstract
|
|
|
|
Congenital muscular dystrophies (CMDs) are autosomal recessive, heterogenous disorders characterized clinically by neonatal hypotonia, delayed motor milestones, joint contrac- tures, and dystrophic changes in the muscles. The classic forms of CMDs are subclassified into merosin positive and deficient (negative) types. Merosin (laminin ? chain)-negative CMD is caused by the mutation in the basal lamina of the ?2 chain gene (LAMA2 gene at 6q22-23). Merosin deficiency could disrupt the attachment of muscle cell to the extracellular matrix and lead to muscle cell necrosis. We report a case of merosin-negative CMD, confirmed by immunohistochemical staining of muscle samples, which is uncommon form in Korea.
|
|
|
KEYWORD
|
|
|
Merosin, Hypotonia, Muscular dystrophy
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
  
|