Marcio Madeira et al. Sara Ranchordás Tiago Nolasco Marta Marques … Maria José Rebocho José Neves
Introduction
Becker muscular dystrophy is a rare genetic disease with a birth incidence of approximately 1:30000 in males. The disease results from a X-linked recessive mutation on the gene located at Xp21, which encodes the dystrophin protein. Clinical manifestations include progressive skeletal muscle weakness and dilated cardiomyopathy which can lead to refractory heart failure. There is no correlation between the severity of cardiac manifestations and the genetic abnormalities.
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