Duchenne muscular dystrophy (DMD), a fatal X-linked recessive disorder, is caused mostly
by frame-disrupting, out-of-frame deletions in the dystrophin (DMD) gene. Antisense …

Duchenne's muscular dystrophy is an X-linked neuromuscular disease that manifests as
muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of …

Study investigators encountered a female Becker muscular dystrophy (BMD) carrier with
advanced heart failure (HF) and identified a stop-gain variant in procollagen-lysine, 2 …

The term episomal induced pluripotent stem cells (EiPSCs) refers to somatic cells that are
reprogrammed into induced pluripotent stem cells (iPSCs) using non-integrative episomal …

Familial dilated cardiomyopathy (DCM) is mostly caused by mutations in genes encoding
cytoskeletal and sarcomeric proteins. In the pediatric population, DCM is the predominant …

The ultimate goal of precision disease modeling is to artificially recreate the disease of
affected people in a highly controllable and adaptable external environment. This field has …

Alterations in the DMD gene, which codes for the protein dystrophin, cause forms of
dystrophinopathies such as Duchenne muscular dystrophy, an X-linked disease …

Recent cutting-edge human genetics technology has allowed us to identify copy number
variations (CNVs) and has provided new insights for understanding causative mechanisms …