Article
Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.
Journal of the American Heart Association - 20 Oct 2020
Jiang Xuan, Shao Yanqiu, Araj Faris G, Amin Alpesh A, Greenberg Benjamin M, Drazner Mark H, Xing Chao, Mammen Pradeep P A
Abstract excerpt
Background Duchenne muscular dystrophy (DMD) is a neuromuscular disorder caused by mutations within the dystrophin gene. DMD is characterized by progressive skeletal muscle degeneration and atrophy and progressive cardiomyopathy. It has been observed the severity of cardiomyopathy varies in patients with DMD. Methods and Results A cohort of male patients with DMD and female DMD carriers underwent whole exome...
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