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Prevalence of congenital myopathies in a representative pediatric united states population

dc.contributor.authorAmburgey, Kimberlyen_US
dc.contributor.authorMcNamara, Nancyen_US
dc.contributor.authorBennett, Lindsey R.en_US
dc.contributor.authorMcCormick, M. Eileenen_US
dc.contributor.authorAcsadi, Gyulaen_US
dc.contributor.authorDowling, James J.en_US
dc.date.accessioned2011-11-10T15:40:09Z
dc.date.available2012-12-03T21:17:31Zen_US
dc.date.issued2011-10en_US
dc.identifier.citationAmburgey, Kimberly; McNamara, Nancy; Bennett, Lindsey R.; McCormick, M. Eileen; Acsadi, Gyula; Dowling, James J. (2011). "Prevalence of congenital myopathies in a representative pediatric united states population." Annals of Neurology 70(4): 662-665. <http://hdl.handle.net/2027.42/87177>en_US
dc.identifier.issn0364-5134en_US
dc.identifier.issn1531-8249en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/87177
dc.description.abstractThe 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;70:662–665en_US
dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.titlePrevalence of congenital myopathies in a representative pediatric united states populationen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelPsychiatryen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Pediatrics, University of Michigan, Ann Arbor, MIen_US
dc.contributor.affiliationotherDepartment of Neurology, Children's Hospital of Michigan, Detroit, MIen_US
dc.contributor.affiliationotherMichigan Institute for Neurological Disorders, Farmington Hills, MIen_US
dc.contributor.affiliationotherDepartment of Pediatrics, Connecticut Children's Medical Center, Hartford, CTen_US
dc.contributor.affiliationother5019 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI 48109‐2200en_US
dc.identifier.pmid22028225en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/87177/1/22510_ftp.pdf
dc.identifier.doi10.1002/ana.22510en_US
dc.identifier.sourceAnnals of Neurologyen_US
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dc.identifier.citedreferenceWilmshurst JM, Lillis S, Zhou H, et al., RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010; 68: 717 – 726.en_US
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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