Annals of Rehabilitation Medicine

Case Report: J Korean Acad Rehabil Med. 2010;34(4):471-474.; 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; Department of Rehabilitation Medicine, Pusan National University School of Medicine, Korea. yi0314@gmail.com

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 Ձ chain)-negative CMD is caused by the mutation in the basal lamina of the Ձ2 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. (J Korean Acad Rehab Med 2010; 34: 471-474)

Keywords :Merosin, Hypotonia, Muscular dystrophy