Duchenne muscular dystrophy is a rare, progressive, muscle-wasting disease leading to
severe disability and premature death. Treatment is currently symptomatic, but several …

Background Duchenne muscular dystrophy (DMD) is a rare, severely debilitating, and fatal
neuromuscular disease characterized by progressive muscle degeneration. Like in many …

Purpose Pathogenic variants in KAT6A have recently been identified as a cause of
syndromic developmental delay. Within 2 years, the number of patients identified with …

Background Worldwide approximately 7,000 rare diseases have been identified.
Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to …

Antisense oligonucleotide (AON)‐mediated exon skipping is an emerging therapeutic for
individuals with Duchenne muscular dystrophy (DMD). Skipping of exons adjacent to …

In this review, we discuss the therapies used in the treatment of patients with Duchenne
muscular dystrophy since the first description of the disease. A short description is given of …

As the utility of genetic and genomic testing in healthcare grows, there is need for a high‐
quality genomic knowledge base to improve the clinical interpretation of genomic variants …

Introduction In this study we investigate associations between genotypic and
sociodemographic factors and the age of diagnosis of Duchenne muscular dystrophy …

PURPOSE: We investigated the prognostic utility of onset age at first signs and symptoms
(SS) to predict onset age at loss of ambulation (LOA) for childhood-onset Duchenne and …

Bohring–Opitz syndrome (BOS) is a rare genetic condition caused by pathogenic variants in
ASXL1, which is a gene involved in chromatin regulation. BOS is characterized by severe …