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Open Accesshttps://doi.org/10.1136/bmjopen-2015-007798
Copy DOI Journal: BMJ open |  Publication Date: Jan 1, 2016 |
 Citations: 61 |  License type: open-access |
Affiliation: University of Modena and Reggio Emilia, University of Padua, Azienda Ospedaliera Sant'Andrea, IRCCS Eugenio Medea, Ospedale Maggiore, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University College London, San Camillo IRCCS di Venezia, University of Chieti-Pescara, University of Milan, University of Pisa, Fondazione Stella Maris, Istituti di Ricovero e Cura a Carattere Scientifico, University of Turin, University of Verona, University of Pavia, Istituto Giannina Gaslini, University of Messina, University of Massachusetts Chan Medical SchoolObjectivesFacioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers (≤8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence...
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