Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy

Merosin-deficient CMD type 1A (MDC1A), caused by mutations of laminin subunit alpha 2 (LAMA2), is a predominant subtype of congenital muscular dystrophy (CMD). Herein, we described a Chinese patient with MDC1A who was admitted to hospital 17 days after birth because of marasmus and feeding difficult...

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Detalles Bibliográficos
Autores principales: Zhou, Jing, Tan, Jianxin, Ma, Dingyuan, Zhang, Jingjing, Cheng, Jian, Luo, Chunyu, Liu, Gang, Wang, Yuguo, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816747/
https://www.ncbi.nlm.nih.gov/pubmed/29487616
http://dx.doi.org/10.3389/fgene.2018.00043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816747/
https://www.ncbi.nlm.nih.gov/pubmed/29487616
http://dx.doi.org/10.3389/fgene.2018.00043

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