Frameshift mutations in the DMD gene, encoding dystrophin, cause Duchenne muscular dystrophy (DMD), leading to terminal muscle and heart failure in patients. Somatic gene editing by sequence-specific nucleases offers new options for restoring the DMD reading frame, resulting in expression of a shorten...
Introduction Dystrophin is a large cytoplasmic protein that provides structural integrity to muscle. Mutations in the dystrophin gene result in X-linked dilated cardiomyopathy, Becker muscular dystrophy, and Duchenne muscular dystrophy (DMD)1,2,3. Loss of dystrophin protein has also been reported in a...
Duchenne muscular dystrophy (DMD) is the most common muscle disease in children and is passed on by X-linked recessive inheritance. Characteristic is a progressive muscular atrophy. The disease often results in death before the third decade of life. Researchers of the Universities of Maynooth (Irel...
Osnat Atun-EinyInsaf Khoury-AssafDisabil RehabilDisability & RehabilitationElboim-Gabyzon M., Atun-Einy O., Khoury-Assaf I. Early use of power wheelchair for children with Duchenne muscular dystrophy: a narrative review. Disabil Rehabil. 2016; 9:1-9....
Duchenne muscular dystrophy (DMD) is the most common muscle disease in children and is passed on by X-linked recessive inheritance. Characteristic is a progressive muscular atrophy. The disease often results in death before the third decade of life.
center Yasuhiro Takeshima1, Mariko Yagi1, Yo Okizuka1, Hiroyuki Awano1, Zhujun Zhang1, Yumiko Yamauchi1, Hisahide Nishio2 and Masafumi Matsuo1 Recent developments in molecular therapies for Duchenne muscular dystrophy (DMD) demand accurate genetic diagnosis, because therapies are mutation specific....
Upregulation of endogenous utrophin offers great promise for treating DMD, as it can functionally compensate for the lack of dystrophin caused by DMD gene mutations, without the immunogenic concerns associated with delivering dystrophin. However, post-tr
Duchenne muscular dystrophy (DMD) is a fatal disorder caused by the absence of a fully functional dystrophin protein in myocytes due to a mutated DMD gene, which encodes the dystrophin protein [1]. The normal dystrophin protein features an N-terminal actin-binding domain that anchors the protein...
Morgoulis, D.; Berenstein, P.; Cazacu, S.; Kazimirsky, G.; Dori, A.; Barnea, E.R.; Brodie, C. sPIF promotes myoblast differentiation and utrophin expression while inhibiting fibrosis in Duchenne muscular dystrophy via the H19/miR-675/let-7 and miR-21 pathways.Cell Death Dis.2019,10...
Figure 1.PRISMA flow diagram. 3.2. Patient Characteristics and Acquisition of Samples Studies included in the review gathered families with a history of Duchenne muscular dystrophy (Table 1). One study conditioned enrollment on a confirmed molecular diagnosis of DMD in addition to available reference ...