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

15 Mar 2019

Abstract excerpt

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...

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PMID: 31220271
DOI: 10.1093/hmg/ddz055

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