Correlation between clinical features and deletions of the gene for dystrophin in duchenne muscular dystrophy.
نویسندگان
چکیده
منابع مشابه
Screening of dystrophin gene deletions in Malaysian patients with Duchenne muscular dystrophy.
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive genetic disorder characterized by rapidly progressive muscle weakness. The disease is caused by deletion, duplication or point mutation of the dystrophin gene, located on the X chromosome (Xp21). Deletion accounts for 60% of the mutations within the 79 exons of the dystrophin gene. Seven exons (43, 44, 45, 46, 49, 50, and 51) were found...
متن کاملDuchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment.
Duchenne muscular dystrophy (DMD) is caused by mutations in the gene that encodes the 427-kDa cytoskeletal protein dystrophin. Increased knowledge of the function of dystrophin and its role in muscle has led to a greater understanding of the pathogenesis of DMD. This, together with advances in the genetic toolkit of the molecular biologist, are leading to many different approaches to treatment....
متن کاملDystrophin Levels Required for Genetic Correction of Duchenne Muscular Dystrophy
Correction of the muscle pathology in Duchenne muscular dystrophy (DMD) could theoretically be achieved if methods are developed to produce functional versions of the dystrophin protein in muscle tissue. While a variety of approaches are currently being tested to achieve this aim, we have explored the feasibility of correcting the dystrophic pathology using transgenic mouse model systems. By ge...
متن کاملDystrophin gene replacement and gene repair therapy for Duchenne muscular dystrophy in 2016.
After years of relentless efforts, gene therapy has now begun to deliver its therapeutic promise in several diseases. A number of gene therapy products have received regulatory approval in Europe and Asia. Duchenne muscular dystrophy (DMD) is an X-linked inherited lethal muscle disease. It is caused by mutations in the dystrophin gene. Replacing and/or repair the mutated dystrophin gene holds g...
متن کاملDeletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.
OBJECTIVE The deletion in the dystrophin gene has been reported for many ethnic groups, but until now the mutations in this gene have not been thoroughly investigated in Saudi patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). We examined the deletion pattern in the dystrophin gene of the Saudi patients applying multiplex-polymerase chain reaction (PCR). The ai...
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: Japanese Journal of Medicine
سال: 1991
ISSN: 0021-5120,1881-123X
DOI: 10.2169/internalmedicine1962.30.1