The ACTN3 577XX null genotype is associated with low left ventricular dilation-free survival rate in patients with Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD; MIM No.310200) is the most common inherited muscle disease, estimated to affect approximately 1 out of 3,500 to 5,000 male newborns.1,2 It is a fatal disease diagnosed in childhood and characterized by progressive muscle wasting caused by a mutation in the DMD gene. Affected individuals commonly lose their ability to walk around 10 years after beginning to walk in infancy.3,4 Patients with DMD have multiple complications, of which cardiomyopathy and resultant heart failure is the most common cause of morbidity and mortality.

Source: Journal of Cardiac Failure - August 9, 2020 Category: Cardiology Authors: Masashi Nagai, Hiroyuki Awano, Tetsushi Yamamoto, Ryosuke Bo, Masafumi Matsuo, Kazumoto Iijima Tags: Research article Source Type: research