dystrophinopathy

dystrophinopathy

(dĭs-trŏf″ĭn-ŏp′ă-thē) [″ + ″]
Diseases of muscle, such as Duchenne or Becker muscular dystrophy, that result from deficiencies or abnormalities of dystrophin.
References in periodicals archive ?
Was there any indication for a NMD, such as Barth-syndrome, myoad-enylate-deaminase deficiency, myotonic dystrophy, dystrophinopathy, zaspopathy, hereditary neuropathy, Friedreich ataxia, Pompe's disease, a mitochondrial disorder, or laminopathy, which have been reported to be associated with LVHT?
Given creatine kinase concentrations within the reference interval, a dystrophinopathy is unlikely in our patient (35).
Consequently, variations in these exons apparently do not inevitably produce a dystrophinopathy phenotype.
29) have studied the 'mdx mouse', an animal model for DMD, and established a molecular signature of dystrophinopathy, with evidence that secondary mechanisms are key contributors to pathogenesis.
The following posters will be presented on October 3 from 14:30 - 16:00 during Dystrophinopathy pharmco and pharmaco-gene therapy Session.
Control samples consisted of sera from 30 healthy individuals (17 women and 13 men; ages, 18-55 years), 19 non-MG patients with autoimmune diseases [10 with systemic lupus erythematosus (SLE) and 9 with rheumatoid arthritis], and 28 patients with other neurological diseases (11 with multiple sclerosis, 6 with amyotrophic lateral sclerosis, 5 with polyneuropathy, 4 with dystrophinopathy, 1 with polymyositis, and 1 with pseudotumor orbitae).
The FDA has also granted ataluren Subpart E designation for expedited development, evaluation, and marketing for CF and dystrophinopathy and Fast Track designation for the development of treatment for nonsense mutation dystrophinopathy.
1, 2010 /PRNewswire/ -- Data published in the December issue of the medical journal Muscle and Nerve confirm the utility of six-minute walk distance (6MWD) as a clinically meaningful endpoint in dystrophinopathy, a disease continuum comprising Duchenne and Becker muscular dystrophy (DBMD).
today announced that final analyses of Phase 2b efficacy data suggest the investigational new drug ataluren slowed the loss of walking ability in patients with nonsense mutation dystrophinopathy, a disease continuum comprising Duchenne and Becker muscular dystrophy (nmDBMD).
We are pleased that the results of these analyses suggest that ataluren provided clinically meaningful benefits to patients with nonsense mutation dystrophinopathy," said Stuart Peltz, Ph.