منابع مشابه
Symptomatic therapy of Duchenne Muscular Dystrophy (DMD)
DMD certainly has a remarkable position amongst all hereditary muscle disorders. Noteworthy is its relatively high incidence as a " rare disease " , its X-chromosomal mode of inheritance, the high frequency of new mutations , as well as its relatively rapid and fatal course. For a century the disorder was considered to be untreatable. Only 40 years ago the patients' " natural " age at death was...
متن کاملTransition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy, affecting 1 in 3500 live male births. Mutations in the X chromosome result in an absence of dystrophin, causing progressive muscle degeneration and loss of ambulation by the early teens with respiratory, orthopaedic and cardiac complications. Without intervention these complications lead to death at a mean age of...
متن کاملDuchenne Muscular Dystrophy (DMD) Protein-Protein Interaction Mapping
Objective Duchenne muscular dystrophy (DMD) is one of the mortal diseases, subjected to study in terms of molecular investigation. In this study, the protein interaction map of this muscle-wasting condition was generated to gain a better knowledge of interactome profile of DMD. Materials & Methods Applying Cytoscape and String Database, the protein-protein interaction network was constructed ...
متن کاملDuchenne muscular dystrophy An overview of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) affects approximately 1 in 3,500 live male births [1]. It is caused by a large variety of mutations in the dystrophin gene. Because of these mutations, the body can no longer make dystrophin which is a protein important for stabilisation of the muscle cell during a contraction. Without dystrophin, muscle cells are damaged and slowly replaced by fat and scar tis...
متن کاملP164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2018
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-017-0013-2