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

Prevalence of congenital myopathies in a representative pediatric united states population

Kimberly Amburgey  1 , Nancy McNamara, Lindsey R Bennett, M Eileen McCormick, Gyula Acsadi, James J Dowling
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Free article

Prevalence of congenital myopathies in a representative pediatric united states population

Kimberly Amburgey et al. Ann Neurol. 2011 Oct.
Free article

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.

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