Prevalence of Congenital Myopathies in a Representative Pediatric United States Population

被引：107

作者：

Amburgey, Kimberly ^{[1
]}

McNamara, Nancy ^{[1
]}

Bennett, Lindsey R. ^{[2
]}

McCormick, M. Eileen ^{[3
]}

Acsadi, Gyula ^{[4
]}

Dowling, James J. ^{[1
]}

机构：

[1] Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

[2] Childrens Hosp Michigan, Dept Neurol, Detroit, MI 48201 USA

[3] Michigan Inst Neurol Disorders, Farmington Hills, MI USA

[4] Connecticut Childrens Med Ctr, Dept Pediat, Hartford, CT USA

来源：

ANNALS OF NEUROLOGY | 2011年 / 70卷 / 04期

关键词：

DISEASE;

D O I：

10.1002/ana.22510

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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

引用

页码：662 / 665

页数：4

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