Background: Spinal muscular atrophy (SMA) is a congenital neuromuscular disorder that is typically caused by absence of survival motor neuron 1 (SMN1). Canonical teaching is […]
Background: Activity monitoring with consumer- or research-grade devices has been used to evaluate gait and physical activity in neuromuscular disease. Wrist-worn (W) and smartphone-embedded (S) […]
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, and is amenable to gene-editing and gene replacement therapies. Serious adverse events have […]
Duchenne muscular dystrophy is an X-linked developmental disorder caused by mutations in the dystrophin gene leading to progressive muscular weakness and premature death due to […]
Duchenne muscular dystrophy (DMD) is a degenerative muscle disease caused by the lack of the structural protein dystrophin. Despite the common genetic basis, genetic modifiers […]
Duchenne muscular dystrophy is an X-linked developmental disorder caused by mutations in the dystrophin (Dys) gene leading to progressive muscular weakness and premature death due […]
Objective: The ReSolve study in facioscapulohumeral dystrophy (FSHD) is a multi-site, international study undertaken to refine study design for clinical trials. One goal of this […]
LAMA2-congenital muscular dystrophy (LAMA2-CMD) is caused by mutations in the LAMA2 gene, encoding the ?2 chain of laminins 211/221, components of the extracellular matrix. Using […]
LAMA2-congenital muscular dystrophy (LAMA2-CMD) is a neuromuscular disease triggered by mutations in LAMA2, codifying the ?2 chain of laminins 211/221, and leads to reduced muscle […]