Article
The ACTN3 577XX Null Genotype Is Associated with Low Left Ventricular Dilation-Free Survival Rate in Patients with Duchenne Muscular Dystrophy.
Journal of cardiac failure - 1 Oct 2020
Nagai Masashi, Awano Hiroyuki, Yamamoto Tetsushi, Bo Ryosuke, Matsuo Masafumi, Iijima Kazumoto
Abstract excerpt
BACKGROUND: Duchenne muscular dystrophy (DMD) is a fatal progressive muscle-wasting disease caused by mutations in the DMD gene. Dilated cardiomyopathy is the leading cause of death in DMD; therefore, further understanding of this complication is essential to reduce morbidity and mortality. METHODS: A common null variant (R577X) in the ACTN3 gene, which encodes α-actinin-3, has been studied in association with...
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