Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1

Muscular dystrophy‐dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later‐onset limb‐girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha‐dystroglyc...

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Detalles Bibliográficos
Autores principales: Hu, Pengzhi, Wu, Song, Yuan, Lamei, Lin, Qiongfen, Zheng, Wen, Xia, Hong, Xu, Hongbo, Guan, Liping, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5487925/
https://www.ncbi.nlm.nih.gov/pubmed/28157257
http://dx.doi.org/10.1111/jcmm.13068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5487925/
https://www.ncbi.nlm.nih.gov/pubmed/28157257
http://dx.doi.org/10.1111/jcmm.13068

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