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 (1,2). 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 (3).
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Kneppers, A.L.J., Ginjaar, I.B., Bakker, E. (2004). Duchenne and Becker Muscular Dystrophy. In: Elles, R., Mountford, R. (eds) Molecular Diagnosis of Genetic Diseases. Methods in Molecular Medicine™, vol 92. Humana Press, Totowa, NJ. https://doi.org/10.1385/1-59259-432-8:311
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DOI: https://doi.org/10.1385/1-59259-432-8:311
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