Article
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Clinical genetics - 1 Mar 2024
Strafella Claudia, Colantoni Luca, Megalizzi Domenica, Trastulli Giulia, Piorgo Emma Proietti, Primiano Guido, Sancricca Cristina, Ricci Giulia, Siciliano Gabriele, Caltagirone Carlo, Filosto Massimiliano, Tasca Giorgio, Ricci Enzo, Cascella Raffaella, Giardina Emiliano
Abstract excerpt
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease, although 10%-30% of cases are sporadic. However, this percentage may include truly de novo patients (carrying a reduced D4Z4 allele that is not present in either of the parents) and patients with apparently sporadic disease resulting from mosaicism, non-penetrance, or complex genetic situations in either patients or parents. In this study, we...
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