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Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy

ObjectiveAlpha-dystroglycanopathy (α-DGP) is a subtype of muscular dystrophy caused by defects in the posttranslational glycosylation of α-dystroglycan (α-DG). Our study aimed to summarize the clinical and genetic features of POMT2-related α-DGP in a cohort of patients in China.MethodsPedigrees, cli...

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Detalhes bibliográficos
Principais autores: Xiao-Yu Chen, Dan-Yu Song, Li Jiang, Dan-Dan Tan, Yi-Dan Liu, Jie-Yu Liu, Xing-Zhi Chang, Guo-Gang Xing, Tatsushi Toda, Hui Xiong
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021-08-01
Colecção:Frontiers in Genetics
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Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2021.692479/full
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