Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

Abstract 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...

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Main Authors: Giulia Ricci, Fabiano Mele, Monica Govi, Lucia Ruggiero, Francesco Sera, Liliana Vercelli, Cinzia Bettio, Lucio Santoro, Tiziana Mongini, Luisa Villa, Maurizio Moggio, Massimiliano Filosto, Marina Scarlato, Stefano C. Previtali, Silvia Maria Tripodi, Elena Pegoraro, Roberta Telese, Antonio Di Muzio, Carmelo Rodolico, Elisabetta Bucci, Giovanni Antonini, Maria Grazia D’Angelo, Angela Berardinelli, Lorenzo Maggi, Rachele Piras, Maria Antonietta Maioli, Gabriele Siciliano, Giuliano Tomelleri, Corrado Angelini, Rossella Tupler
Format: Article
Language:English
Published: Nature Publishing Group 2020-12-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-020-78578-7

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https://doi.org/10.1038/s41598-020-78578-7

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