Merosin-deficient congenital muscular dystrophy type 1A: A case report

The aim of this study was to characterize the clinical and genetic features of a 4-year-old female with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). MDC1A is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), locali...

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Detalles Bibliográficos
Autores principales: HE, ZHANWEN, LUO, XIANGYANG, LIANG, LIYANG, LI, PINGGAN, LI, DONGFANG, ZHE, MENG
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820831/
https://www.ncbi.nlm.nih.gov/pubmed/24223650
http://dx.doi.org/10.3892/etm.2013.1271

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820831/
https://www.ncbi.nlm.nih.gov/pubmed/24223650
http://dx.doi.org/10.3892/etm.2013.1271

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