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

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...

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Bibliografiske detaljer
Udgivet i:Hum Mol Genet
Main Authors: Overend, Gayle, Légaré, Cécilia, Mathieu, Jean, Bouchard, Luigi, Gagnon, Cynthia, Monckton, Darren G
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6586140/
https://ncbi.nlm.nih.gov/pubmed/31220271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz055
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