Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive condition that affects the dystrophin gene, and lack of dystrophin is accompanied by a deficiency in […]
The muscular dystrophies (MDs) are a class of genetic muscle diseases often characterized by progressive degeneration and replacement of muscle with fibrotic tissue. Limited treatment […]
Background: Currently, there are no clinician-rated assessments of movement compensation that capture finer, functional changes of Limb-girdle muscular dystrophies (LGMD) disease progression. The Duchenne Video […]
Compelling therapies for DM1 are on the very near-horizon. Ideally the gene-targeted treatment not only fully addresses root causality but has maximal tolerability and easy […]
Background: Low blood phosphate (Pi) reduces muscle function in hypophosphatemic disorders. However, it is unknown, which Pi transporters are required and whether hormonal changes due […]
RNA-binding proteins (RBPs) play critical roles in post-transcriptional regulation of RNAs, including RNA splicing, polyadenylation, stabilization, localization and translation. Pathogenic missense variants in RBPs such […]
Myotonic dystrophy type 1 (DM1) is the most common life-limiting muscular dystrophy in adults. Abnormal mitochondrial function likely contributes to the muscle pathology in DM1. […]
Variants in the oxidoreductase PYROXD1 have recently been identified as a cause of an ultra-rare myopathy, with ~25 patients currently diagnosed worldwide. Our group initially […]
Intro/Background: The Duchenne Video Assessment (DVA) was developed to assess ease of movement in patients with Duchenne muscular dystrophy. The outcome measure uses at-home video […]