منابع مشابه
Clinics, Histopathology and Dystrophin in Dmd and Bmd
Mutations of the dystrophin DMD gene, essentially deletions of one or several exons, are the cause of two devastating and to date incurable diseases, Duchenne (DMD) and Becker (BMD) muscular dystrophies. Depending upon the preservation or not of the reading frame, dystrophin is completely absent in DMD, or present in either a mutated or a truncated form in BMD. DMD is a severe disease which lea...
متن کاملClinical fractures beyond low BMD
The risk of fractures is multifactorial and is related to the ability of bone to resist fracturing, which depends on its material and structural properties, and on the intensity, frequency and impact of trauma. Low BMD is a major determinant of bone strength and fracture risk. However, most patients with a fracture have no osteoporosis and BMD explains <50% of bone strength and fracture risk. B...
متن کاملScreening of Dystrophin Gene Deletions in Egyptian Patients with DMD/BMD Muscular Dystrophies
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations within the dystrophin gene. Our study has identified 100 Egyptian families collected from the Human Genetics Clinic, National Research Center, Cairo. All cases were subjected to complete clinical evaluation pedigree analysis, electromyography studies, estimation of serum creatine phos...
متن کاملA 15-year molecular analysis of DMD/BMD: genetic features in a large cohort
Duchenne (DMD) and Becker muscular dystrophies (BMD) are X-linked recessive neuromuscular disorders caused by mutations in the dystrophin gene. In most cohorts, DMD/BMD are due to deletions (60-80%) and duplications (6-10%) involving one or more exons. The remaining cases are caused by different type of point mutations. We analyzed 179 unrelated male patients, 296 women belonging to 137 DMD/BMD...
متن کاملThe AAV-mediated and RNA-guided CRISPR/Cas9 system for gene therapy of DMD and BMD.
Mutations in the dystrophin gene (Dmd) result in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), which afflict many newborn boys. In 2016, Brain and Development published several interesting articles on DMD treatment with antisense oligonucleotide, kinase inhibitor, and prednisolone. Even more strikingly, three articles in the issue 6271 of Science in 2016 provide new ins...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2020
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2020.08.068