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Integrating D4Z4 Methylation Analysis into Clinical Practice: Improvement of FSHD Molecular Diagnosis Through Distinct Thresholds for 4qa/4qa and 4qa/4qb Patients

Claudia Strafella,Domenica Megalizzi,Giulia Trastulli, Emma Proietti Piorgo,Luca Colantoni,Giorgio Tasca,Mauro Monforte,Stefania Zampatti,Guido Primiano,Cristina Sancricca,Sara Bortolani,Eleonora Torchia, Beatrice Ravera,Francesca Torri,Giulio Gadaleta,Barbara Risi,Filomena Caria,Francesca Gerardi,Elena Carraro,Valeria Gioiosa,Matteo Garibaldi,Laura Tufano,Erica Frezza,Roberto Massa,Carlo Caltagirone,Elena Maria Pennisi,Antonio Petrucci,Marika Pane,Annalia Frongia, Francesca Gragnani,Marianna Scutifero,Paola Mandich,Marina Grandis,Maria Antonietta Maioli,Carlo Casali,Elisabetta Manfroi,Luisa Politano,Luigia Passamano,Roberta Petillo,Carmelo Rodolico,Alessia Pugliese,Stefano Carlo Previtali,Valeria Sansone,Liliana Vercelli,Tiziana Enrica Mongini,Giulia Ricci,Gabriele Siciliano,Massimiliano Filosto,Enzo Ricci,Raffaella Cascella,Emiliano Giardina

CLINICAL EPIGENETICS（2024）

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Key words
Neuromuscular diseases,FSHD,FSHD signature,FSHD diagnosis,Epigenetic biomarker,DNA methylation
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