Two novel deep intronic variants cause Duchenne muscular dystrophy by splice-altering mechanism

•Two novel DMD intronic pathogenic variants were identified using targeted long-read sequencing.•Long-read sequencing accurately provides the breakpoint information for the two novel DMD intronic variants.•Pseudoexon activation is the mechanism underlying the two novel DMD intronic pathogenic varian...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Neuromuscular disorders : NMD 2024-12, Vol.45, p.104470, Article 104470
Hauptverfasser:	Zhao, Lei, Hu, Chaoping, Pan, Shirang, Wang, Depeng, Wang, Yi, Li, Xihua
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Deep intronic variants Duchenne muscular dystrophy Dystrophin - genetics Humans Introns - genetics Long-read sequencing Male Muscle biopsy Muscle, Skeletal - pathology Muscular Dystrophy, Duchenne - genetics Mutation Pseudoexon RNA Splicing - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!