A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD gene

Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels. A 1-year-old Chinese patient was diagnosed with early-onset Duchenne muscular dystrophy. Next-generation gene sequencing...

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Detalles Bibliográficos
Autores principales: Li, Xing-Chuan, Wang, Song, Zhu, Jia-Rui, Yin, Yu-Shan, Zhang, Ni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130841/
https://www.ncbi.nlm.nih.gov/pubmed/35646370
http://dx.doi.org/10.1177/2050313X221100881

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130841/
https://www.ncbi.nlm.nih.gov/pubmed/35646370
http://dx.doi.org/10.1177/2050313X221100881

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