Identification of Two Novel Variants of the DMD Gene in Chinese Families with Duchenne Muscular Dystrophy

BACKGROUND: Duchenne muscular dystrophy (DMD), an X-linked recessive neuromuscular disorder, is caused by pathogenic variants in the DMD gene encoding a large structural protein in muscle cells. METHODS: Two probands, a 6-year old boy and a 1-month old infant, respectively, were clinically diagnosed...

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Detalles Bibliográficos
Autores principales: Wu, Jiangfen, Ren, Lingyan, Huang, Xinyi, Hu, Li, Zhang, Liangliang, Xie, Dan, Li, Zhimin, Han, Naijian, Huang, Shengwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10441636/
https://www.ncbi.nlm.nih.gov/pubmed/37609034
http://dx.doi.org/10.2147/PGPM.S416294

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