Design A prospective longitudinal observational study across 17 neuromuscular centres in the UK of 360 boys aged 3–15 years with confirmed Duchenne muscular dystrophy who were treated with daily or ...

Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. Objective To present clinical and histological findings in six children with a ...

cNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA dDubowitz Neuromuscular Centre ...

Department of Chemistry, UF Scripps Biomedical Research and The Scripps Research Institute, Jupiter, Florida 33458, United States Department of Chemistry and Pharmaceutical Sciences, University of ...

Considering all features, CORDX3 is more similar to other X chromosomal cone-rod dystrophies than to CSNB2. CORDX, X linked cone-rod dystrophy CSNBX, congenital stationary night blindness ERG, ...

Pathologic changes of the X-chromosome gene for dystrophin give rise to Duchenne muscular dystrophy (DMD), and dystrophin -- which minimizes muscle fiber loss due to sarcolemma contraction damage ...

Satellos Bioscience’s SAT-3247 was safe, well-tolerated, and showed initial signs of increasing muscle strength in five adults with Duchenne muscular dystrophy (DMD), the company said. “We believe the ...

A 46-year-old woman with type 1 myotonic dystrophy (DM1) presented to the emergency department with dyspnea and palpitations. The patient had a history of mild cognitive impairment, muscle weakness, ...

Knowing when to prepare for an approaching hurricane or tropical storm can be stressful, which is why is it important to refresh yourself and your family on understanding the forecast cone along ...

Mouth tape is a billion-dollar industry. Is it worth your money?

Among the spinocerebellar ataxias, the association between cerebellar ataxia and cone-rod retinal dystrophy is a strong indicator of spinocerebellar ataxia type 7. Spinocerebellar ataxia type 7 ...

NEWPORT BEACH, Calif., May 21, 2025 /PRNewswire/ -- CureDuchenne, a global nonprofit committed to finding and funding a cure for Duchenne muscular dystrophy, proudly announces the appointment of ...