Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Abstract Background LAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2-CMD) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by LAMA2 pathogenic variants. We aimed to describe the natural history and establish genotype–phenotype...

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Bibliographic Details
Main Authors: Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu, Bing Mao, Bo Jin, Ying Hua, Xiaoli Zhang, Bingbing Zhang, Wenhua Zhu, Cheng Zhang, Yanjuan Wang, Yun Yuan, Yuwu Jiang, Anne Rutkowski, Carsten G. Bönnemann, Xiru Wu, Hui Xiong
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Natural history
Genotype
LAMA2
Muscular dystrophy
Rare diseases
Online Access:https://doi.org/10.1186/s13023-021-01950-x

Internet

https://doi.org/10.1186/s13023-021-01950-x

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