Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy

Muscular dystrophy‐dystroglycanopathy (limb‐girdle), type C, 9 (MDDGC9) is the rarest type of autosomal recessive muscular dystrophies. MDDGC9 is manifested with an early onset in childhood. Patients with MDDGC9 usually identified with defective glycosylation of DAG1, hence it is known as “dystrogly...

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Bibliografiske detaljer
Udgivet i:J Cell Mol Med
Main Authors: Dai, Yi, Liang, Shengran, Dong, Xue, Zhao, Yanhuan, Ren, Haitao, Guan, Yuzhou, Yin, Haifang, Li, Chen, Chen, Lin, Cui, Liying, Banerjee, Santasree
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2018
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6349151/
https://ncbi.nlm.nih.gov/pubmed/30450679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.13979
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