Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under devel...

Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene (DMD), and is characterized by progressive weakness inskeletal andcardiacmuscles.Currently, dilatedcardiomyopathydue to cardiac muscle loss is one of the major causes of lethality in late-stage DMD patients. To study the molecular mechanisms underlying dilated cardiomyopathy in DMD heart, we generated cardiomyocytes...

The dynamic mode decomposition (DMD) is a data-driven method used for identifying the dynamics of complex nonlinear systems. It extracts important characteristics underlying using measured time-domain data produced either by means experiments or numerical simulations. In original methodology, measurements are assumed to be approximately related linear operator. Hence, discrete-time system fitte...

BACKGROUND Descemet membrane detachment (DMD) is a significant complication noted during or early after cataract surgery. Review of literature revealed a few cases of delayed-onset DMD with presentation ranging from weeks to months after cataract surgery but most of them were treated with pneumatic descemetopexy and a few ended in penetrating keratoplasty. We report this case, to highlight the ...

Cystic fibrosis (CF) is the most common genetic disease among Caucasians. Duchenne muscular dystrophy (DMD) is one of the most common X-linked genetic disorders. The CF and DMD genes were discovered a few years ago, which provided the possibility for prenatal diagnosis and preimplantation diagnosis of CF and DMD by using specific DNA analysis. In this article, CF, DMD, the process of the identi...

Duchenne muscular dystrophy (DMD) is caused by mutation in the dystrophin gene. In DMD, only male carrying the mutated DMD gene is affected while female becomes carrier of the disease because of the X-linked recessive characteristics of the disorder. About one-third of DMD cases show de novo mutations, while the rest are inherited through carrier others or arise from germlinemosaicism. The reco...

BACKGROUND Currently, clinical trials for new therapeutic strategies are being planned for Duchenne and Becker muscular dystrophies (DMD/BMD). However, it is difficult to obtain adequate numbers of patients in clinical trials. As solutions to these problems, patient registries are an important resource worldwide, especially in rare diseases such as DMD/BMD. METHODS We developed a national reg...

Duchenne muscular dystrophy (DMD) is a devastating X-linked muscle disorder characterized by muscle wasting which is caused by mutations in the DMD gene. The DMD gene encodes the sarcolemmal protein dystrophin, and loss of dystrophin causes muscle degeneration and necrosis. Thus far, therapies for this disorder are unavailable. However, various therapeutic trials based on gene therapy, exon ski...