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Prevalence of congenital myopathies in a representative pediatric united states population
Author(s) -
Amburgey Kimberly,
McNamara Nancy,
Bennett Lindsey R.,
McCormick M. Eileen,
Acsadi Gyula,
Dowling James J.
Publication year - 2011
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.22510
Subject(s) - medicine , pediatrics , population , ryr1 , prevalence , environmental health , ryanodine receptor , calcium
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