Display options
Share it on

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).

Biochimica et biophysica acta

Massimo Santoro, Luana Fontana, Marcella Masciullo, Maria Laura Ester Bianchi, Salvatore Rossi, Emanuele Leoncini, Giuseppe Novelli, Annalisa Botta, Gabriella Silvestri

Affiliations

  1. Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy. Electronic address: [email protected].
  2. Department of Biomedicine and Prevention, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy. Electronic address: [email protected].
  3. IRCCS Fondazione Santa Lucia, Via Ardeatina, 306, 00142 Rome, Italy. Electronic address: [email protected].
  4. Department of Geriatrics, Neuroscience and Orthopedics, Institute of Neurology, UCSC, Largo F. Vito 1, 00168 Rome Italy. Electronic address: [email protected].
  5. Department of Geriatrics, Neuroscience and Orthopedics, Institute of Neurology, UCSC, Largo F. Vito 1, 00168 Rome Italy. Electronic address: [email protected].
  6. Institute of Public Health, Section of Hygiene, UCSC, Largo F. Vito 1, 00168 Rome, Italy. Electronic address: [email protected].
  7. Department of Biomedicine and Prevention, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy. Electronic address: [email protected].
  8. Department of Biomedicine and Prevention, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy. Electronic address: [email protected].
  9. Department of Geriatrics, Neuroscience and Orthopedics, Institute of Neurology, UCSC, Largo F. Vito 1, 00168 Rome Italy. Electronic address: [email protected].

PMID: 26391753 DOI: 10.1016/j.bbadis.2015.09.007

[No abstract available.]

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

Publication Types