Article
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Scientific reports - 10 Dec 2020
Ricci Giulia, Mele Fabiano, Govi Monica, Ruggiero Lucia, Sera Francesco, Vercelli Liliana, Bettio Cinzia, Santoro Lucio, Mongini Tiziana, Villa Luisa, Moggio Maurizio, Filosto Massimiliano, Scarlato Marina, Previtali Stefano C, Tripodi Silvia Maria, Pegoraro Elena, Telese Roberta, Di Muzio Antonio, Rodolico Carmelo, Bucci Elisabetta, Antonini Giovanni, D'Angelo Maria Grazia, Berardinelli Angela, Maggi Lorenzo, Piras Rachele, Maioli Maria Antonietta, Siciliano Gabriele, Tomelleri Giuliano, Angelini Corrado, Tupler Rossella
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Assessment of size of D4Z4 alleles is commonly used for FSHD diagnosis. However, the extended molecular testing has expanded the spectrum of clinical phenotypes. In particular,...
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