Format

Send to

Choose Destination
Biochim Biophys Acta. 2015 Dec;1852(12):2645-52. doi: 10.1016/j.bbadis.2015.09.007. Epub 2015 Sep 21.

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).

Author information

1
Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy. Electronic address: masantoro@dongnocchi.it.
2
Department of Biomedicine and Prevention, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy. Electronic address: fontanaluana@libero.it.
3
IRCCS Fondazione Santa Lucia, Via Ardeatina, 306, 00142 Rome, Italy. Electronic address: m.masciullo@hsantalucia.it.
4
Department of Geriatrics, Neuroscience and Orthopedics, Institute of Neurology, UCSC, Largo F. Vito 1, 00168 Rome Italy. Electronic address: mlebianchi@hotmail.com.
5
Department of Geriatrics, Neuroscience and Orthopedics, Institute of Neurology, UCSC, Largo F. Vito 1, 00168 Rome Italy. Electronic address: salvatorerossi309@gmail.com.
6
Institute of Public Health, Section of Hygiene, UCSC, Largo F. Vito 1, 00168 Rome, Italy. Electronic address: emanuele.leoncini@rm.unicatt.it.
7
Department of Biomedicine and Prevention, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy. Electronic address: novelli@med.uniroma2.it.
8
Department of Biomedicine and Prevention, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy. Electronic address: botta@med.uniroma2.it.
9
Department of Geriatrics, Neuroscience and Orthopedics, Institute of Neurology, UCSC, Largo F. Vito 1, 00168 Rome Italy. Electronic address: gsilvestri@rm.unicatt.it.

KEYWORDS:

DMPK; High resolution melting; Methylation; Myotonic dystrophy type 1; SIX5; Variant expansions

PMID:
26391753
DOI:
10.1016/j.bbadis.2015.09.007
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center