Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes

<b>Background/Objectives</b>: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the <i>DMD</i> gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is the most common inherited muscular dystrophy. <b>Methods</b>: We screened datasets of...

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Bibliografiske detaljer

Principais autores:	Katja Neuhoff, Ozge Aksel Kilicarslan, Corinna Preuße, Ann-Kathrin Zaum, Heike Kölbel, Hanns Lochmüller, Ulrike Schara-Schmidt, Kiran Polavarapu, Andreas Roos, Andrea Gangfuß
Format:	Artigo
Sprog:	Inglês
Udgivet:	MDPI AG 2024-11-01
Serier:	Biomedicines
Fag:	Becker muscular dystrophy BMD DMD Duchenne muscular dystrophy dystrophin molecular diagnosis
Online adgang:	https://www.mdpi.com/2227-9059/12/12/2738
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