Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

Valley sign in Becker muscular dystrophy and outliers of Duchenne and Becker muscular dystrophy.

Valley sign has been described in patients with Duchenne muscular dystrophy (DMD). As there are genetic and clinical similarities between DMD and Becker muscular dystrophy (BMD), this clinical sign is evaluated in this study in BMD and DMD/BMD outliers. To evaluate the sign, 28 patients with Becker muscular dystrophy (BMD), 8 DMD/BMD outliers and 44 age-matched male controls with other neuromus...

Becker and Duchenne Muscular Dystrophy Test

The Becker and Duchenne Muscular Dystrophy Test provides a high quality read-out of all exons of DMD gene. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and Express service TAT 7-10 days). The Becker and Duchenne Muscular Dystrophy Test ha...

Improved diagnosis of Duchenne/Becker muscular dystrophy.

Functional muscle ischemia in Duchenne and Becker muscular dystrophy

Duchenne and Becker muscular dystrophy (DMD/BMD) comprise a spectrum of devastating X-linked muscle wasting disease for which there is no treatment. DMD/BMD is caused by mutations in the gene encoding dystrophin, a cytoskeletal protein that stabilizes the muscle membrane and also targets other proteins to the sarcolemma. Among these is the muscle-specific isoform of neuronal nitric oxide syntha...

Serum Creatinine Level: A Supplemental Index to Distinguish Duchenne Muscular Dystrophy from Becker Muscular Dystrophy

BACKGROUND To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn) level reflects disease severity. METHODS Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. RESULTS Serum Crn level had a strong inverse correlation with Vignos score by simple correlation (r = -0.793) and partial correlation a...