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

OBJECTIVE: Alpha-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. METHODS: Pedigrees...

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Detalles Bibliográficos
Autores principales: Chen, Xiao-Yu, Song, Dan-Yu, Jiang, Li, Tan, Dan-Dan, Liu, Yi-Dan, Liu, Jie-Yu, Chang, Xing-Zhi, Xing, Guo-Gang, Toda, Tatsushi, Xiong, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370027/
https://www.ncbi.nlm.nih.gov/pubmed/34413876
http://dx.doi.org/10.3389/fgene.2021.692479

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370027/
https://www.ncbi.nlm.nih.gov/pubmed/34413876
http://dx.doi.org/10.3389/fgene.2021.692479

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