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Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis

BackgroundDMD genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence and death from cardiac and/or respiratory failure to very mild muscular phenotypes; very rarely, cases are completely asymptomatic. Few ca...

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Hlavní autoři: Min Zhang, Zhaodong Lin, Meihuan Chen, Danhua Guo, Qiaomei Yang, Qianqian He, Bin Mao, Bin Liang, Lingji Chen, Meiying Cai, Hailong Huang, Liangpu Xu
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2025-04-01
Edice:Frontiers in Pediatrics
Témata:
DMD
asymptomatic
SNP-array
MLPA
LRS
On-line přístup:https://www.frontiersin.org/articles/10.3389/fped.2025.1541468/full
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