Prevalence of congenital myopathies in a representative pediatric united states population.
cross_sectional · Level IV
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- Record sourced from PubMed, PMID 22028225.
- Also identified by DOI 10.1002/ana.22510.
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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.
Medical subject headings
- Muscular Dystrophies
- Ryanodine Receptor Calcium Release Channel