Congenital muscular dystrophy type 1A with residual merosin expression

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...

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Autores principales: Kim, Hyo Jeong, Choi, Young-Chul, Park, Hyung Jun, Lee, Young-Mock, Kim, Heung Dong, Lee, Joon Soo, Kang, Hoon-Chul
Formato: Artigo
Lenguaje:Inglês
Publicado: The Korean Pediatric Society 2014
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4000761/
https://ncbi.nlm.nih.gov/pubmed/24778697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2014.57.3.149
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