Abstract
The two forms of dystrophin-associated muscular dystrophies, known as Duchenne and Becker muscular dystrophy (DMD/BMD; OMIM 310200) are caused by genetic defects in the huge DMD gene (79 exons), located at Xp21 and coding for the 427-kDa protein known as dystrophin (,). DMD is the most frequent muscular disorder in boys, with an incidence of 1 in 3,500 males and a new mutation frequency of 1 in 10,000. Characteristics of the severe DMD phenotype are early-onset progressive degenerative myopathy with pseudohypertrophy of the calves, associated with highly elevated creatine kinase levels in blood and the almost complete absence (<2%) of dystrophin in muscle cells. Although dystrophin is detectable in patients with the milder Becker phenotype, the protein is less functional and is usually of abnormal size ().
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
