De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1-Reference-Cited by-同舟云学术

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

Published:2018-07-02 Issue:11 Volume:26 Page:1635-1647
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Cumming Sarah A.^ORCID, ,Hamilton Mark J.^ORCID,Robb Yvonne,Gregory Helen,McWilliam Catherine,Cooper Anneli,Adam Berit,McGhie Josephine,Hamilton Graham^ORCID,Herzyk Pawel,Tschannen Michael R.,Worthey Elizabeth,Petty Richard,Ballantyne Bob,Warner Jon,Farrugia Maria Elena,Longman Cheryl,Monckton Darren G.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0156-9.pdf

Reference46 articles.

1. Turner C, Hilton-Jones D. Myotonic dystrophy: diagnosis, management and new therapies. Curr Opin Neurol. 2014;27:599–606.

2. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell. 1992;68:799–808.

3. Mahadevan MS, Amemiya C, Jansen G, et al. Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum Mol Genet. 1993;2:299–304.

4. Fu YH, Pizzuti A, Fenwick RG Jr., et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992;255:1256–8.

5. Jaspert A, Fahsold R, Grehl H, Claus D. Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat. J Neurol. 1995;242:99–104.

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