Prevalence of congenital myopathies in a representative pediatric united states population | Zendy

Amburgey Kimberly | Zendy; McNamara Nancy | Zendy; Bennett Lindsey R. | Zendy; McCormick M. Eileen | Zendy; Acsadi Gyula | Zendy; Dowling James J. | Zendy

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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

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