Figure 3. Genotype-Phenotype Correlation.

Age of first-symptom-onset by gender and mutation type is depicted. Mutation types were used as categories of genotype, while age of symptom onset (usually cardiomyopathy but also included skeletal myopathy) was used as a measure of phenotype severity. The utilization of age of death as a measure of phenotype severity (not shown) displayed similar trends, although not enough cases were present in several mutation categories to assess statistical significance.

n = number of Danon disease patients