Demonstrating successful preclinical efficacy measures in mouse models of neuromuscular diseases is a critical step for ensuring the success of therapeutic interventions in human clinical […]
Dystrophin-deficient muscle is characterized by progressive muscle atrophy and weakness due to repeated cycles of injury and incomplete regeneration. Glucocorticoid (GC) steroid treatments, namely deflazacort […]
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by a lack of dystrophin protein resulting in skeletal and cardiac muscle membrane instability. Cellular […]
Background: DOCK (dedicator of cytokinesis) are proteins of an 11-member family of typical guanine exchange factors (GEFs) with many DOCKs expressed in skeletal muscle and […]
Duchenne muscular dystrophy (DMD) is a progressive muscle disease which manifests as difficulty walking in childhood, loss of ambulation by the teens, and death early […]
Background: Many patients with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing including second-generation short read sequencing (SRS) and standard variant analyses of that […]
Purpose: Approved therapies for Duchenne muscular dystrophy (DMD) use phosphorodiamidate morpholino oligomer (PMO) to induce exon skipping in the dystrophin pre-mRNA thereby restoring the open […]
Gradual replacement of contractile myofibers with non-contractile fibro-fatty infiltrate is a hallmark of muscular dystrophies and other chronic myopathies. While the development and persistence of […]
FSHD is a rare genetic muscular disorder, usually presenting with slow progressing and asymmetric muscle weakness. The cause of FSHD is an expression of the […]