Article
Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscular dystrophies using cardiac magnetic resonance imaging.
The American journal of cardiology - 1 Apr 2015
Tandon Animesh, Jefferies John L, Villa Chet R, Hor Kan N, Wong Brenda L, Ware Stephanie M, Gao Zhiqian, Towbin Jeffrey A, Mazur Wojciech, Fleck Robert J, Sticka Joshua J, Benson D Woodrow, Taylor Michael D
Abstract excerpt
Duchenne and Becker muscular dystrophies are caused by mutations in dystrophin. Cardiac manifestations vary broadly, making prognosis difficult. Current dystrophin genotype-cardiac phenotype correlations are limited. For skeletal muscle, the reading-frame rule suggests in-frame mutations tend to yield milder phenotypes. We performed dystrophin genotype-cardiac phenotype correlations using a protein-effect model...
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