Congenital muscular dystrophy type 1A with residual merosin expression

• Main Authors: Hyo Jeong Kim (Author), Young-Chul Choi (Author), Hyung Jun Park (Author), Young-Mock Lee (Author), Heung Dong Kim (Author), Joon Soo Lee (Author), Hoon-Chul Kang (Author)
• Format: Book
• Published: Korean Pediatric Society, 2014-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin α2 (LAMA2...