Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.

ABSTRACT: Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited disorder caused by expansion of a germline and somatically unstable CTG repeat in the DMPK gene. Previously, CTG repeat length at birth has been correlated to patient age at symptom onset. Attempts to correlate CTG repeat length with progressive DM1 phenotypes, such as muscle power, have proven difficult. To better correlate genotype with progressive phenotypes, we have measured CTG repeat tract length and screened for interrupting variant repeats in 192 study participants from a well-characterized Canadian cohort. We have assessed genotype-phenotype correlations with nine progressive measures of skeletal muscle power and respiratory function. We have built statistical models that include confounding factors such as sex, ag

SUBMITTER: Overend G 

PROVIDER: S-EPMC6586140 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature