Congenital muscular dystrophy type 1A with residual merosin expression

• Автори: Hyo Jeong Kim (Автор), Young-Chul Choi (Автор), Hyung Jun Park (Автор), Young-Mock Lee (Автор), Heung Dong Kim (Автор), Joon Soo Lee (Автор), Hoon-Chul Kang (Автор)
• Формат: Книга
• Опубліковано: Korean Pediatric Society, 2014-03-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...