Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

Objectives Facioscapulohumeral 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 of additional extra-muscular features, have been associated with the shortest...

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Main Authors: Antonio Di Muzio, Corrado Angelini, Tiziana Mongini, Liliana Vercelli, Lucia Morandi, Giovanni Antonini, Gabriele Siciliano, Lucio Santoro, Maurizio Moggio, Giacomo Brisca, Luisa Villa, Giuliano Tomelleri, Francesco Sera, Carmelo Rodolico, Lorenzo Maggi, Giulia Ricci, Angela Berardinelli, Elena Pegoraro, Sabrina Ravaglia, Chiara Fiorillo, Michelangelo Cao, Rossella Tupler, Ana Nikolic, Elisabetta Bucci, Monica Govi, Fabiano Mele, Marta Rossi, Lucia Ruggiero, Maria Chiara D'Amico, Maria Grazia D'Angelo, Claudio Bruno
Format: Article
Language:English
Published: BMJ Publishing Group 2016-01-01
Series:BMJ Open
Online Access:https://bmjopen.bmj.com/content/6/1/e007798.full
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