2023
DOI: 10.3389/fped.2023.1261318
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A novel splicing mutation identified in a DMD patient: a case report

Yuting Wen,
Luo Yang,
Gan Shen
et al.

Abstract: BackgroundDuchenne muscular dystrophy (DMD, ORPHA:98896) is a lethal X-linked recessive disease that manifests as progressive muscular weakness and wasting. Mutations in the dystrophy gene (DMD) are the main cause of Duchenne muscular dystrophy.Case presentationThis study aims to determine novel mutations of DMD and help preimplantation genetic diagnosis (PGD) for family planning. Here present a 4-year-old Chinses boy with DMD, whole-exome sequencing (WES) was performed to identify the molecular basis of the d… Show more

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“…DMD is a rare genetic condition with an estimated prevalence of one in 3600 male births worldwide [2,[23][24][25][26][27][28][29]. An absence or deficiency of dystrophin protein leads to progressive muscle weakness, respiratory and cardiac complications, and premature death [2,5].…”
Section: Discussionmentioning
confidence: 99%
“…DMD is a rare genetic condition with an estimated prevalence of one in 3600 male births worldwide [2,[23][24][25][26][27][28][29]. An absence or deficiency of dystrophin protein leads to progressive muscle weakness, respiratory and cardiac complications, and premature death [2,5].…”
Section: Discussionmentioning
confidence: 99%