Mutations in the dystrophin (Duchenne muscular dystrophy [ DMD ]) gene, which encodes a protein connecting the cytoskeleton of muscle fibers, result in X-linked recessive dystrophinopathy
, including DMD and Becker muscular dystrophy (BMD).
Prognostic value of X-chromosome in-activation in symptomatic female carriers of dystrophinopathy
According to the company, ataluren (Translarna) is an oral, first-in-class, protein restoration therapy for the treatment of nonsense mutation dystrophinopathy
, including nonsense Duchenne muscular dystrophy (nmDMD).
Xp21 contiguous gene deletion is a microdeletion syndrome with intellectual disability,congenital adrenal hypoplasia,glyserol kinase deficiency and dystrophinopathy
Tarnopolsky, "Patients with dystrophinopathy
show evidence of increased oxidative stress," Free Radical Biology and Medicine, vol.
Mutational spectrum of DMD mutations in dystrophinopathy
patients: application of modern diagnostic techniques to a large cohort.
Duchenne muscular dystrophy (DMD) and allelic Becker muscular dystrophy (BMD) are the most common forms of MDs, together termed as dystrophinopathy
, the expanding phenotype: dystrophin abnormalities in X-linked dialated cardiomyopathy.
Detection of new paternal Dystrophin gene mutations in isolated cases of Dystrophinopathy
expressing as either cardiomyopathy or Becker dystrophy in the same family.
2 December 2010 - US biopharmaceutical company PTC Therapeutics Inc said yesterday that 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).
Probable cases were symptomatic, had an elevated CK level, and had an X-linked pedigree consistent with a dystrophinopathy