Prevalence of congenital myopathies in a representative pediatric united states population.
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.
Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA. .
Kimberly
K
Amburgey
Nancy
N
McNamara
Lindsey R
LR
Bennett
M Eileen
ME
McCormick
Gyula
G
Acsadi
James J
JJ
Dowling
D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008824:Michigan / Q000453:epidemiology; D009136:Muscular Dystrophies / Q000453:epidemiology* / Q000235:genetics*; D009154:Mutation; D015995:Prevalence; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D014481:United States / Q000453:epidemiology
D019837:Ryanodine Receptor Calcium Release Channel