Aortic aneurysm and dissection are manifestations of Marfan syndrome (MFS), a disorder
caused by mutations in the gene that encodes fibrillin-1. Selected manifestations of MFS reflect …

Muscle–eye–brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD)
are congenital muscular dystrophies with associated, similar brain malformations 1 , 2 . The …

Skeletal muscle has the ability to achieve rapid repair in response to injury or disease 1 . Many
individuals with Marfan syndrome (MFS), caused by a deficiency of extracellular fibrillin-1…

Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …

Fukuyama congenital muscular dystrophy (FCMD), muscle–eye–brain disease (MEB), and
Walker–Warburg syndrome are congenital muscular dystrophies (CMDs) with associated …

Muscular dystrophies represent a heterogeneous group of disorders, which have been largely
classified by clinical phenotype. In the last 10 years, identification of novel skeletal muscle …

Transforming growth factor–β (TGFβ) signaling drives aneurysm progression in multiple
disorders, including Marfan syndrome (MFS), and therapies that inhibit this signaling cascade …

To investigate mechanisms in the pathogenesis of cardiomyopathy associated with
mutations of the dystrophin–glycoprotein complex, we analyzed genetically engineered mice …

The standard of care for first-tier clinical investigation of the aetiology of congenital malformations
and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy…

Striated muscle-specific disruption of the dystroglycan (DAG1) gene results in loss of the
dystrophin-glycoprotein complex in differentiated muscle and a remarkably mild muscular …