Prevalence of congenital myopathies in a representative pediatric united states population.

ABSTRACT

The prevalence of congenital myopathies in the United States has not been examined. To address this, we determined the point prevalence of congenital myopathies in a well-defined pediatric population from Southeastern Michigan. The overall point prevalence was 126,000. Mutations in RYR1 were the most common cause of congenital myopathies at 190,000. Our data broadly agrees with estimates from previous European studies and provides the first estimate of the prevalence of congenital myopathies in the United States. Ann Neurol 2011;70662-665.