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Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature

Duchenne muscular dystrophy (DMD MIM#310200) is a degenerative muscle disease caused by mutations in the dystrophin gene located on Xp21.2. The clinical features encompass muscle weakness and markedly elevated serum creatine kinase levels. An 8-year-old Chinese boy was diagnosed with Duchenne muscul...

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Hlavní autoři: Yue Liu, Yanhui Tang, Hui Zhang, Hongying Chen, Qing Luo, Jinbo Liu
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2024-04-01
Edice:Heliyon
Témata:
Duchenne muscular dystrophy
Gene mutation
Frameshift
Dystrophin
Case report
On-line přístup:http://www.sciencedirect.com/science/article/pii/S240584402404708X
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