A bimonthly publication part of the Brazilian Society of Cardiology portfolio of journals connected with ABC Cardiol publishing national and international scientific production in the field of cardiovascular sciences.
ISSN 2359-4802
eISSN 2359-5647
Marcio Madeira, Sara Ranchordás, Tiago Nolasco, Marta Marques, Maria José Rebocho, [...]
Marcio Madeira, Sara Ranchordás, Tiago Nolasco, Marta Marques, Maria José Rebocho, [...]
DOI: 10.5935/2359-4802.20170083
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. […]
Keywords: Muscular Dystrophy Duchenne/genetics; Myotonia Congenita, Heart Transplantation; Aftercare