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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الحاوية / القاعدة:	Frontiers in Genetics
المؤلفون الرئيسيون:	Qianqian Li, Zhanni Chen, Hui Xiong, Ranran Li, Chenguang Yu, Jingjing Meng, Panlai Shi, Xiangdong Kong
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Frontiers Media S.A. 2021-11-01
الموضوعات:	Duchenne muscular dystrophy partial exonic deletion breakpoints whole exome sequencing long-read whole-genome sequencing
الوصول للمادة أونلاين:	https://www.frontiersin.org/articles/10.3389/fgene.2021.762987/full