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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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Détails bibliographiques
Publié dans:Hum Mol Genet
Auteurs principaux: Overend, Gayle, Légaré, Cécilia, Mathieu, Jean, Bouchard, Luigi, Gagnon, Cynthia, Monckton, Darren G
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2019
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Accès en ligne: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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