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Article

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

9 Aug 2019

Abstract excerpt

ObjectiveTo evaluate the role of genetic variation at the DMPK locus on symptomatic diversity in 250 adult, ambulant patients with myotonic dystrophy type 1 (DM1) recruited to the Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life—Standards, a Target Identification Collaboration (OPTIMISTIC) clinical trial. MethodsWe used small pool PCR to correct age at sampling biases and...

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PMID: 31395669
DOI: 10.1212/wnl.0000000000008056

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Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohortPMID 31395669Read ↗

Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset.Semantic proximity Read ↗

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.Semantic proximity Read ↗

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Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1.Semantic proximity Read ↗

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Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease.Semantic proximity Read ↗

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