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Prevalence of congenital myopathies in a representative pediatric united states population

✍ Scribed by Kimberly Amburgey; Nancy McNamara; Lindsey R. Bennett; M. Eileen McCormick; Gyula Acsadi; James J. Dowling

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
279 KB
Volume
70
Category
Article
ISSN
0364-5134

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✦ Synopsis

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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