Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes

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...

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Bibliographic Details
Main Authors: Katja Neuhoff, Ozge Aksel Kilicarslan, Corinna Preuße, Ann-Kathrin Zaum, Heike Kölbel, Hanns Lochmüller, Ulrike Schara-Schmidt, Kiran Polavarapu, Andreas Roos, Andrea Gangfuß
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Biomedicines
Subjects:
Becker muscular dystrophy
BMD
DMD
Duchenne muscular dystrophy
dystrophin
molecular diagnosis
Online Access:https://www.mdpi.com/2227-9059/12/12/2738
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