A novel splicing mutation identified in a DMD patient: a case report

A novel splicing mutation identified in a DMD patient: a case report

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 mut...

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Bibliographic Details
Main Authors: Yuting Wen, Luo Yang, Gan Shen, Siyu Dai, Jing Wang, Xiang Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Pediatrics
Subjects:
DMD
Duchenne muscular dystrophy
preimplantation genetic diagnosis
splicing mutation
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1261318/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1261318/full

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