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

Nicholas E JohnsonRussell J ButterfieldKatie MayneTara NewcombCarina ImburgiaDiane DunnBrett DuvalMarcia L FeldkampRobert B Weiss

Published in: Neurology (2021)

The prevalence of individuals with CTG repeat expansions in DMPK is up to 5 times higher than previous reported estimates. This suggests that DM1, with multisystemic manifestations, is likely underdiagnosed in practice.

Keyphrases

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