duchenne muscular dystrophy (dmd) and becker muscular dystrophy (bmd) can be caused by deletions, duplications or point mutations in the dmd gene that encodes dystrophin. partial gene duplications account for up to 5-10 % of dmd and up to 5- 19% of bmd cases. cases with gene duplication in dmd/bmd are determined by quantitative methods such as maph, sothern blotting and q-pcr that are laborious...

Boys with Duchenne's muscular dystrophy (DMD) usually have a cardiomyopathy characterized by fibrosis of the epicardial half of the left ventricle. This cardiomyopathy is difficult to detect by noninvasive techniques. We report a technique that evaluates incremental left ventricular posterior wall thickening and thinning. High-quality left ventricular posterior wall echoes in 24 boys with DMD a...

BACKGROUND Patients with DMD experience progressive restrictive respiratory disease and eventual respiratory failure. Standard of care guidelines command changes in disease management when forced vital capacity percent of predicted (FVC% p) falls below clinically relevant thresholds. The Phase 3 DELOS trial in patients with DMD demonstrated that idebenone reduces the loss of peak expiratory flo...

BACKGROUND The goal of this research was to compare the demographics, clinical characteristics and treatment patterns for newly diagnosed multiple sclerosis (MS) patients in a commercial managed care population who received disease-modifying drug (DMD) therapy versus those not receiving DMD therapy. METHODS A retrospective cohort study using US administrative healthcare claims identified indi...

DMD gene mutations have been associated with the development of Dystrophinopathies. Interestingly, it has been recently reported that DMD is involved in the development and progression of myogenic tumors, assigning DMD a tumor suppressor activity in these types of cancer. However, there are only few reports that analyze DMD in non-myogenic tumors. Our study was designed to examine DMD expressio...

Purpose. The purpose of this study was to assess the desirability of Duchenne muscular dystrophy (DMD) screening, the effectiveness of the consent process, and the feasibility of conducting DMD screening in a pediatric office. Methods. Infant males who attended a 12-month routine well-child visit at a participating pediatric clinic were screened for DMD. Parents and providers completed post-scr...

The Ca2+-stimulated Mg2-dependent ATPase activities (Ca2+-ATPase) of erythrocyte-ghost membranes from patients with Duchenne muscular dystrophy (DMD) and carriers of DMD were compared with activities of normal controls. The Ca2+-ATPase activity of DMD-patient ghost preparations was found to follow the same pattern of activation by Ca2+ as the control membranes. However, the Ca2+-ATPase activity...