Key result
The overall point prevalence of congenital myopathies in a pediatric population from Southeastern Michigan was 1:26,000, with RYR1 mutations being the most common cause at 1:90,000.
Population
Pediatric population from Southeastern Michigan, United States
Design
Cross-sectional
Authors
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Provides first US prevalence data for congenital myopathies; leaves generalizability and clinical utility open.
Cross-Sectional
This study provides the first estimate of the prevalence of congenital myopathies in the United States, finding an overall point prevalence of 1:26,000.
Amburgey et al. (2011) conducted a cross-sectional in Congenital myopathies. Congenital myopathies was evaluated on Point prevalence of congenital myopathies. The overall point prevalence of congenital myopathies in a pediatric population from Southeastern Michigan was 1:26,000, with RYR1 mutations being the most common cause at 1:90,000.
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