Prevalence of Congenital Myopathies in a Representative Pediatric United States Population
Prevalence of Congenital Myopathies in a Representative Pediatric United States Population
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DOI：
10.1002/ana.22510
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发表时间：
2011-10-01
影响因子：
11.2
通讯作者：
Dowling, James J.
中科院分区：
文献类型：
--
作者：
Amburgey, Kimberly;McNamara, Nancy;Dowling, James J.
尚未对美国先天性肌病的患病率进行调查。为了解决这个问题，我们确定了密歇根州东南部明确的儿科人群中先天性肌病的点患病率。总点患病率为1：26,000。 RYR1 突变是先天性肌病的最常见原因，比例为 1:90,000。我们的数据与之前欧洲研究的估计基本一致，并首次估计了美国先天性肌病的患病率。安神经学 2011；70:662-665
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