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 ?
(7.) Flanigan KM, Dunn DM, von Niederhausern A, et al; United Dystrophinopathy Project Consortium.
Liu et al., "Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy," Prenatal Diagnosis, vol.
Dystrophinopathy is the most common type of muscular dystrophy characterized by progressive necrosis, fibrosis, fatty tissue replacement, inflammation, and loss of regenerative capacity in skeletal and cardiac muscles [1, 2].
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).[sup][1] DMD is the most common type of muscular dystrophy, affects 1:3500 to 6000 live male births, and is characterized by weakness of pelvic and shoulder muscles starting in early childhood.[sup][2] DMD is thought to be caused by the mutations causing totally nonfunctional dystrophin protein.[sup][3] In comparison, a reduced amount or shortened dystrophin was thought to lead in BMD, which has a milder clinical manifestation and better prognosis.
Prognostic value of X-chromosome in-activation in symptomatic female carriers of dystrophinopathy. Orphanet Journal of Rare Diseases 7:82.
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.It is a rare disease, reported in around 100 boys and 8 girls in the literature to date.In Xp21 locus,there are dystrophin, GK,DAX1 (NROB1) and IL1RAPL1 genes which are related with dystrophinopathy,glycerol kinase, congenital adrenal hypoplasia and intellectual disability, respectively.In our patient,there was Xp21 deletion including dystrophin,GK,DAX1 and IL1RAPL1 genes.
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. A margin line between DMD and BMD is only justified by the presence of dystrophin protein along with muscle strength.
Dystrophinopathy, the expanding phenotype: dystrophin abnormalities in X-linked dialated cardiomyopathy.