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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Bibliografische gegevens
Gepubliceerd in:Hum Mol Genet
Hoofdauteurs: Overend, Gayle, Légaré, Cécilia, Mathieu, Jean, Bouchard, Luigi, Gagnon, Cynthia, Monckton, Darren G
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2019
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General Article
Online toegang: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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