Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients

BACKGROUND: LMNA-related muscular dystrophy is caused by mutations in LMNA gene. We aimed to identify genetic variations and clinical features in a large cohort of Chinese patients with LMNA mutations in an attempt to establish genotype-phenotype correlation. METHODS: The clinical presentations of p...

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Gepubliceerd in:J Med Genet
Hoofdauteurs: Fan, Yanbin, Tan, Dandan, Song, Danyu, Zhang, Xu, Chang, Xingzhi, Wang, Zhaoxia, Zhang, Cheng, Chan, Sophelia Hoi-Shan, Wu, Qixi, Wu, Liwen, Wang, Shuang, Yan, Hui, Ge, Lin, Yang, Haipo, Mao, Bing, Bönnemann, Carsten, Liu, Jingying, Wang, Suxia, Yuan, Yun, Wu, Xiru, Zhang, Hong, Xiong, Hui
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Publishing Group 2021
Onderwerpen:
Genotype-Phenotype Correlations
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8086255/
https://ncbi.nlm.nih.gov/pubmed/32571898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106671
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