Prevalence of congenital myopathies in a representative pediatric united states population
dc.contributor.author | Amburgey, Kimberly | en_US |
dc.contributor.author | McNamara, Nancy | en_US |
dc.contributor.author | Bennett, Lindsey R. | en_US |
dc.contributor.author | McCormick, M. Eileen | en_US |
dc.contributor.author | Acsadi, Gyula | en_US |
dc.contributor.author | Dowling, James J. | en_US |
dc.date.accessioned | 2011-11-10T15:40:09Z | |
dc.date.available | 2012-12-03T21:17:31Z | en_US |
dc.date.issued | 2011-10 | en_US |
dc.identifier.citation | Amburgey, 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.issn | 0364-5134 | en_US |
dc.identifier.issn | 1531-8249 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/87177 | |
dc.description.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 | en_US |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.title | Prevalence of congenital myopathies in a representative pediatric united states population | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Psychiatry | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationother | Department of Neurology, Children's Hospital of Michigan, Detroit, MI | en_US |
dc.contributor.affiliationother | Michigan Institute for Neurological Disorders, Farmington Hills, MI | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Connecticut Children's Medical Center, Hartford, CT | en_US |
dc.contributor.affiliationother | 5019 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI 48109‐2200 | en_US |
dc.identifier.pmid | 22028225 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/87177/1/22510_ftp.pdf | |
dc.identifier.doi | 10.1002/ana.22510 | en_US |
dc.identifier.source | Annals of Neurology | en_US |
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dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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