Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.

doi:10.3390/ijms21072635

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Article

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.

International journal of molecular sciences - 10 Apr 2020

Nikolic Ana, Jones Takako I, Govi Monica, Mele Fabiano, Maranda Louise, Sera Francesco, Ricci Giulia, Ruggiero Lucia, Vercelli Liliana, Portaro Simona, Villa Luisa, Fiorillo Chiara, Maggi Lorenzo, Santoro Lucio, Antonini Giovanni, Filosto Massimiliano, Moggio Maurizio, Angelini Corrado, Pegoraro Elena, Berardinelli Angela, Maioli Maria Antonetta, D'Angelo Grazia, Di Muzio Antonino, Siciliano Gabriele, Tomelleri Giuliano, D'Esposito Maurizio, Della Ragione Floriana, Brancaccio Arianna, Piras Rachele, Rodolico Carmelo, Mongini Tiziana, Magdinier Frederique, Salsi Valentina, Jones Peter L, Tupler Rossella

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive elements at 4q35. Recently, D4Z4 hypomethylation has been proposed as a reliable marker in the FSHD diagnosis. We exploited the Italian Registry for FSHD, in which FSHD families are...

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PMID: 32290091
DOI: 10.3390/ijms21072635
PMCID: PMC7178248

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