Duchenne-Type Progressive Muscular Dystrophy,Progressive Muscular Dystrophy, Duchenne Type,Muscular Dystrophy, Pseudohypertrophic,Pseudohypertrophic Muscular Dystrophy,Muscular Dystrophy, Duchenne [Disease/Finding],Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type,duchenne's muscular dystrophy,duchenne-...
Fat infiltration in Duchenne muscular dystrophy : quantification on T1-weighted images for steroid-treated DMD boys andGarrood, PHollingsworth, K GThelwall, P EBirchall, DBushby, KStraub, V
CT images of the middle part of the thigh were acquired in a patient with Duchenne muscular dystrophy once a year from 6 to 11 years of age. Regions apparently corresponding to subcutaneous fat, bone and bone marrow were manually excluded, and the CT values were calculated to prepare ...
Duchenne muscular dystrophy (DMD) is a severe form of muscular dystrophy without an effective treatment, caused by mutations in the DMD gene, leading to the absence of dystrophin. DMD results in muscle weakness, loss of ambulation, and death at an early age. Metabolomics studies in mdx mice,...
The office of the registry of muscular dystrophy was set up within the National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. This project includes Japanese DMD/BMD patients and was made possible by collaboration with the Japan Muscular Dystrophy Association. Patients The database ...
PURPOSE: To analyze T2 maps of pelvic and thigh muscles in Duchenne muscular dystrophy (DMD), to identify the most severely affected muscle, and to correlate the T2 of muscle with the grade of fatty infiltration at nonquantitative magnetic resonance (MR) imaging and results of clinical assessment...
Duchenne muscular dystrophy (DMD) is a common and severe X-linked myopathy, characterized by muscle degeneration due to altered or absent dystrophin. DMD has no effective cure, and the underlying molecular mechanisms remain incompletely understood. The aim of this study is to investigate the metaboli...
Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in theDMDgene that prevent the body-wide translation of its protein product, dystrophin. Besides a severe muscle phenotype, cognitive impairment and neuropsychiatric symptoms are prevalent. Dystrophin protein 71 (Dp71) is the majorDMD...
Duchenne muscular dystrophy (DMD) is a rare, X-linked neuromuscular disease caused by pathogenic variants in the DMD gene that result in the absence of functional dystrophin, beginning at birth and leading to progressive impaired motor function, loss of
Duchenne muscular dystrophy (DMD) is a monogenic disorder and a candidate for therapeutic genome editing. There have been several recent reports of genome editing in preclinical models of Duchenne muscular dystrophy1–6, however, the long-term persistenc