Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes-Reference-Cited by-同舟云学术

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

Published:2019-03-18 Issue:13 Volume:28 Page:2245-2254
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Overend Gayle¹^ORCID,Légaré Cécilia²³⁴,Mathieu Jean⁵⁴,Bouchard Luigi²³⁴,Gagnon Cynthia⁵⁴,Monckton Darren G¹^ORCID

Affiliation:

1. Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK

2. Department of Biochemistry, Université de Sherbrooke, Sherbrooke, Québec, Canada

3. ECOGENE Biocluster, Chicoutimi, Québec, Canada

4. Groupe de recherche interdisciplinaire sur les maladies neuromusculaires, Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean, rue de l'Hôpital, Saguenay, Québec, Canada

5. École de réadaptation, Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, Canada

Funder

Centre de recherche médicale de l’Université de Sherbrooke

Corporation de recherche et d’action sur les maladies héréditaires

Fondation du grand défi Pierre Lavoie

Fonds de la recherche du Québec en santé

Canadian Institutes of Health Research

Marigold Foundation

Muscular Dystrophy UK

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/28/13/2245/28848120/ddz055.pdf

Reference42 articles.

1. Prevalence of muscular dystrophies: a systematic literature review;Theadom;Neuroepidemiology,2014

2. Molecular-basis of myotonic-dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein-kinase family member;Brook;Cell,1992

3. An unstable triplet repeat in a gene related to myotonic muscular dystrophy;Fu;Science,1992

4. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene;Mahadevan;Science,1992

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