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Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program

20 Jan 2021

Abstract excerpt

Objective To determine whether the genetic prevalence of the CTG expansion in the DMPK gene associated with myotonic dystrophy type 1 (DM1) in an unbiased cohort is higher than previously reported population estimates, ranging from 5 to 20 per 100,000 individuals. Methods This study used a cross-sectional cohort of deidentified dried blood spots from the newborn screening program in the state of New York, taken...

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PMID: 33472919
DOI: 10.1212/wnl.0000000000011425

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