Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing

Duchenne muscular dystrophy (DMD), one of the most common progressive and severely disabling neuromuscular diseases in children, can be largely attributed to the loss of function of the DMD gene on chromosome Xp21.2-p21.1. This paper describes the case of a 10-year-old boy diagnosed with DMD. Whole...

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Detalles Bibliográficos
Autores principales: Li, Qianqian, Chen, Zhanni, Xiong, Hui, Li, Ranran, Yu, Chenguang, Meng, Jingjing, Shi, Panlai, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8662377/
https://www.ncbi.nlm.nih.gov/pubmed/34899847
http://dx.doi.org/10.3389/fgene.2021.762987

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8662377/
https://www.ncbi.nlm.nih.gov/pubmed/34899847
http://dx.doi.org/10.3389/fgene.2021.762987

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