参考文献
1. 中华医学会医学遗传学分会遗传病临床实践指南撰写组, 杜氏进行性肌营养不良的临床实践指南. 中华医学遗传学杂志, 2020. 37(3): p. 258-262.
2. Duan, D., et al., Duchenne muscular dystrophy. Nat Rev Dis Primers, 2021. 7(1): p. 13.
3. Verhaart, I.E.C. and A. Aartsma-Rus, Therapeutic developments for Duchenne muscular dystrophy. Nat Rev Neurol, 2019. 15(7): p. 373-386.
4. Sheikh, O. and T. Yokota, Developing DMD therapeutics: a review of the effectiveness of small molecules, stop-codon readthrough, dystrophin gene replacement, and exon-skipping therapies. Expert Opin Investig Drugs, 2021. 30(2): p. 167-176.
5. Li, Q., et al., Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing. Front Genet, 2021. 12: p. 762987.