Prevalence of congenital myopathies in a representative pediatric united states population

Ann Neurol. 2011 Oct;70(4):662-5. doi: 10.1002/ana.22510.

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 1:26,000. Mutations in RYR1 were the most common cause of congenital myopathies at 1:90,000. 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;70:662-665.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Child
  • Female
  • Humans
  • Male
  • Michigan / epidemiology
  • Muscular Dystrophies / epidemiology*
  • Muscular Dystrophies / genetics*
  • Mutation
  • Prevalence
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • United States / epidemiology

Substances

  • Ryanodine Receptor Calcium Release Channel