Duchenne muscular dystrophy: pathogenesis and promising therapies

M Chang, Y Cai, Z Gao, X Chen, B Liu, C Zhang… - Journal of …, 2023 - Springer
Duchenne muscular dystrophy (DMD) is a severe, progressive, muscle-wasting disease,
characterized by progressive deterioration of skeletal muscle that causes rapid loss of …

Pathophysiology of duchenne muscular dystrophy: current hypotheses

N Deconinck, B Dan - Pediatric neurology, 2007 - Elsevier
Duchenne muscular dystrophy is a devastating inherited neuromuscular disorder that affects
one in 3300 live male births. Although the responsible gene and its product, dystrophin …

Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?

MP Moizard, C Billard, A Toutain… - American journal of …, 1998 - Wiley Online Library
Molecular study and neuropsychological analysis were performed concurrently on 49
patients with Duchenne muscular dystrophy (DMD) in order to find a molecular explanation …

Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening

MP Moizard, A Toutain, D Fournier, F Berret… - European Journal of …, 2000 - nature.com
Duchenne muscular dystrophy is associated with variable degrees of selective cognitive
defect with lower scores for verbal intelligence and reading abilities. A number of findings …

Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development

R Sarig, V Mezger-Lallemand, I Gitelman… - Human Molecular …, 1999 - academic.oup.com
The dystrophin gene, which is defective in Duchenne muscular dystrophy (DMD), also
encodes a number of smaller products controlled by internal promoters. Dp71, which …

Emerging genetic therapies to treat Duchenne muscular dystrophy

SF Nelson, RH Crosbie, MC Miceli… - Current opinion in …, 2009 - journals.lww.com
These novel therapies that act to correct the primary genetic defect of dystrophin deficiency
are among the first generation of therapies tailored to correct specific mutations in humans …

Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

G Felisari, FM Boneschi, A Bardoni, M Sironi, GP Comi… - Neurology, 2000 - AAN Enterprises
Background: Mental retardation is a clinical feature of Duchenne dystrophy (DD) and affects
about one-third of patients. No clear association has been found between DNA mutations …

Innovative therapeutic approaches for Duchenne muscular dystrophy

F Fortunato, R Rossi, MS Falzarano… - Journal of Clinical …, 2021 - mdpi.com
Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy
affecting~ 1: 5000 live male births. Following the identification of pathogenic variations in the …

Duchenne muscular dystrophy: Disease mechanism and therapeutic strategies

A Bez Batti Angulski, N Hosny, H Cohen… - Frontiers in …, 2023 - frontiersin.org
Duchenne muscular dystrophy (DMD) is a severe, progressive, and ultimately fatal disease
of skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy. The identification …

Duchenne muscular dystrophy and dystrophin: Pathogenesis and opportunities for treatment: Third in molecular medicine review series

KJ Nowak, KE Davies - EMBO reports, 2004 - embopress.org
Duchenne muscular dystrophy (DMD) is caused by mutations in the gene that encodes the
427‐kDa cytoskeletal protein dystrophin. Increased knowledge of the function of dystrophin …