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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Detalles Bibliográficos
Autores principales: Dai, Yi, Liang, Shengran, Dong, Xue, Zhao, Yanhuan, Ren, Haitao, Guan, Yuzhou, Yin, Haifang, Li, Chen, Chen, Lin, Cui, Liying, Banerjee, Santasree
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349151/
https://www.ncbi.nlm.nih.gov/pubmed/30450679
http://dx.doi.org/10.1111/jcmm.13979

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