Introduction: Duchenne muscular dystrophy (DMD) is a lethal X-linked inherited disorder
characterised by progressive muscle weakness, wasting and degeneration. Although the …

Splicing of pre-mRNA is a crucial regulatory stage in the pathway of gene expression
controlled by multiple post-and co-transcriptional mechanisms. The large Duchenne …

Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require
precise genetic diagnosis because most therapeutic strategies are mutation-specific. To …

Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is
an ongoing, multicenter registry providing real-world evidence regarding ataluren use in …

Pre-mRNA splicing is a key controller of human gene expression. Disturbances in splicing
due to mutation lead to dysregulated protein expression and contribute to a substantial …

Objective This study was undertaken to determine whether a low residual quantity of
dystrophin protein is associated with delayed clinical milestones in patients with DMD …

A nonsense mutation adds a premature stop signal that hinders any further translation of a
protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions …

Objective To investigate the diagnostic value of implementing a stepwise genetic testing
strategy (SGTS) in genetically unsolved cases with dystrophinopathies. Methods After …

The DMD gene is the largest in the human genome, with a total intron content exceeding 2.2
Mb. In the decades since DMD was discovered there have been numerous reported cases …

Background Phenotypic heterogeneity within or between families with a same deep-intronic
splice-altering variant in the DMD gene has never been systematically analyzed. This study …