Dystrophinopathies result from mutations of the DMD gene that primarily affect skeletal
muscle but also affect heart, brain, and smooth muscle. Advances in the genetic analysis of …

Cardiomyopathies are a heterogeneous group of heart muscle diseases with a variety of
specific phenotypes. According to the contemporary European Society of Cardiology …

Fabry disease (FD) is an X‐linked genetic disorder caused by the deficient activity of
lysosomal α‐galactosidase (α‐Gal). While males are usually severely affected, clinical …

Dystrophin is essential for muscle health: its sarcolemmal absence causes the fatal, X-linked
condition, Duchenne muscular dystrophy (DMD). However, its normal, spatial organization …

Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in
many cases. Previously, X‐linked ID (XLID) studies focused on males because of the …

Duchenne and Becker dystrophinopathies (DMD and BMD) are X-linked recessive disorders
caused by mutations in the dystrophin gene that lead to absent or reduced expression of …

Aims Despite disparities in pathophysiology and disease manifestation between male and
female patients with heart failure, studies focusing on sex differences in biomarkers are …

Methods The Delphi Consensus Initiative presented here is focused on how to reduce the
time to diagnosis of DMD. The development process for this initiative is summarized in …

The dystrophinopathies fall along a spectrum of muscular dystrophy phenotypes, with
variable involvement of skeletal and cardiac muscle, inherited in an X-linked recessive …

The 263rd ENMC International Workshop was convened in Amsterdam 13th-15th May 2022.
This was a hybrid meeting (participants took part either face to face or virtual via an on-line …