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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| Hoofdauteurs: | , , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Frontiers Media S.A.
2021-08-01
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| Reeks: | Frontiers in Genetics |
| Onderwerpen: | |
| Online toegang: | https://www.frontiersin.org/articles/10.3389/fgene.2021.692479/full |
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