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

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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Bibliographic Details
Main Authors: Jing Zhou, Jianxin Tan, Dingyuan Ma, Jingjing Zhang, Jian Cheng, Chunyu Luo, Gang Liu, Yuguo Wang, Zhengfeng Xu
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-02-01
Series:Frontiers in Genetics
Subjects:
merosin-deficient CMD type 1A
laminin subunit alpha 2
mutations
aberrant splicing
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2018.00043/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2018.00043/full

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