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

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 correla...

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Publicat a:Orphanet J Rare Dis
Autors principals: Tan, Dandan, Ge, Lin, Fan, Yanbin, Chang, Xingzhi, Wang, Shuang, Wei, Cuijie, Ding, Juan, Liu, Aijie, Wang, Shuo, Li, Xueying, Gao, Kai, Yang, Haipo, Que, Chengli, Huang, Zhen, Li, Chunde, Zhu, Ying, Mao, Bing, Jin, Bo, Hua, Ying, Zhang, Xiaoli, Zhang, Bingbing, Zhu, Wenhua, Zhang, Cheng, Wang, Yanjuan, Yuan, Yun, Jiang, Yuwu, Rutkowski, Anne, Bönnemann, Carsten G., Wu, Xiru, Xiong, Hui
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8287797/
https://ncbi.nlm.nih.gov/pubmed/34281576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01950-x
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