Article
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.
BMJ open - 5 Jan 2016
Nikolic Ana, Ricci Giulia, Sera Francesco, Bucci Elisabetta, Govi Monica, Mele Fabiano, Rossi Marta, Ruggiero Lucia, Vercelli Liliana, Ravaglia Sabrina, Brisca Giacomo, Fiorillo Chiara, Villa Luisa, Maggi Lorenzo, Cao Michelangelo, D'Amico Maria Chiara, Siciliano Gabriele, Antonini Giovanni, Santoro Lucio, Mongini Tiziana, Moggio Maurizio, Morandi Lucia, Pegoraro Elena, Angelini Corrado, Di Muzio Antonio, Rodolico Carmelo, Tomelleri Giuliano, Grazia D'Angelo Maria, Bruno Claudio, Berardinelli Angela, Tupler Rossella
Abstract excerpt
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 D4Z4 reduced alleles with 1-3 repeats (1-3 DRA). We searched for signs of perinatal onset and evaluated disease...
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