A large and complex gene on the X chromosome encodes dystrophin. Multiple dystrophin isoforms are expressed in brain, but little is known about their function. Diagnosis of DMD is based on the symptoms, clinical exam, and the result of a biopsy to remove a small piece of muscle for examination under a microscope. Ishikawa-Sakurai et al. In extremely rare cases, females can also be affected by DMD. Heart disease is a leading cause of death in patients with Duchenne muscular dystrophy (DMD). Approximately 15,000 U.S. patients are affected with DMD, with a DMD causes a progressive loss of muscle strength attributable to a loss of a protein called dystrophin, which normally protects muscle fibers from breaking down. Cleavage of dystrophin may have a role in the release of virus from the myocyte, since viral counts are increased in the absence of dystrophin (). Briefly, iCMs were The DMD gene provides instructions for making a protein called dystrophin.This protein is located primarily in skeletal and cardiac muscle, where it helps stabilize and protect muscle fibers. Clin Proteom DOI 10.1186/s12014-016-9109-x REVIEW Clinical utility of serum biomarkers in Duchenne muscular dystrophy Yetrib Hathout*, Haeri Seol, Meng Hsuan J. Han, Aiping Zhang, Kristy J. Patients with DMD lack the protein dystrophin, which is widely expressed in striated muscle. (1992), while DMD patients with abundant dystrophin were observed by us in other 4 patients (Vainzof et al., 1993). Hathout et al. Dystrophin, a subsarcolemmal pro-tein encoded by Dmd, is thought to play a role in sarco-lemma stability, localization, and function of different proteins that trigger damage process when absent [1, 2]. '. Dystrophin-deficient mice, dogs, and cats (which arose by spontaneous mutation) and more recently nematodes [in which the DMD gene has undergone targeted disruption ()] play a number of important roles in research into the 3 Exon skipping treatment The idea of exon skipping is to allow DMD patients to make this BMD-like protein, instead of not having any protein at all, in the hope of modulating their disease to a milder clinical course. The DMD gene, dystrophin protein, and dystrophin-glycoprotein complex The mode of inheritance for DMD was long suspected to be X-linked because of the disease’s predominance in males. Altered expression of the dystrophin homologue β‐spectrin has been reported, which is symptomatic of findings of altered expression of a range of proteins homologous to dystrophin in DMD, with no consistent pattern emerging (). DMD is associated with specific learning and behavioral disabilities that are more prominent in patients with mutations in the distal part of Previously, we have reported altered … RESEARCH Open Access Altered social behavior and ultrasonic communication in the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy Rubén Miranda1,2,3*, Flora Nagapin1,2, Bruno Bozon1,2, Serge Laroche1,2, Thierry Aubin1,2 and Cyrille Vaillend1,2* Purinergic signaling and DMD inflammation Chronic sterile inflammation of muscles is an important feature in both DMD and the mdx mouse model. (1996), the mutation may have resulted in dissociation of dystrophin and beta ( 6 ) proposed that enteroviral proteins interact with and adversely affect myocyte proteins to induce myocyte dysfunction and cardiomyopathy. Duchenne muscular dystophy (DMD) is a severe muscle wasting disease caused by mutations in the dystrophin gene. 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