Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Giulia Ricci, Isabella Scionti, Francesco Sera, Monica Govi, Roberto D'Amico, Ilaria Frambolli, Fabiano Mele, Massimiliano Filosto, Liliana Vercelli, Lucia Ruggiero, Angela Berardinelli, Corrado Angelini, Giovanni Antonini, Elisabetta Bucci, Michelangelo Cao, Jessica Daolio, Antonio Di Muzio, Rita Di Leo, Giuliana Galluzzi, Elisabetta IannacconeLorenzo Maggi, Valerio Maruotti, Maurizio Moggio, Tiziana Mongini, Lucia Morandi, Ana Nikolic, Ebe Pastorello, Enzo Ricci, Carmelo Rodolico, Lucio Santoro, Maura Servida, Gabriele Siciliano, Giuliano Tomelleri, Rossella Tupler

Research output: Contribution to journalArticlepeer-review

Abstract

Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (

Original languageEnglish
Pages (from-to)3408-3417
Number of pages10
JournalBrain
Volume136
Issue number11
DOIs
Publication statusPublished - 2013

Keywords

  • D4Z4 reduced allele
  • Disease expression
  • Facioscapulohumeral muscular dystrophy
  • Genotype-phenotype correlations
  • Penetrance

ASJC Scopus subject areas

  • Clinical Neurology

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