Genotype-Phenotype Correlation
The dystrophin deficient cardiomyopathies, Becker’s and Duchenne
Muscular Dystrophy differ in both genetic alteration, and residual
protein function. Within each disease however, further attempts to
correlate specific genotype and phenotype have been
made16. Patients with sparing of certain crucial
domains within the protein, or mutations which replace a single amino
acid rather than disrupting the entire protein reading frame, trend
towards having milder cardiac phenotype on magnetic resonance
imaging17. While mutation analysis may help to predict
age of onset of cardiomyopathy in the muscular dystrophy, arrhythmia
burden has not included in these studies18,19.