Article
The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.
Clinical genetics - 1 Feb 2026
Torri Francesca, Strafella Claudia, Vercelli Liliana, Gadaleta Giulio, Risi Barbara, Megalizzi Domenica, Colantoni Luca, Ciurli Beatrice, Rende Mariaconcetta, Filosto Massimiliano, Mongini Tiziana, Siciliano Gabriele, Giardina Emiliano, Ricci Giulia
Abstract excerpt
Facioscapulo-humeral muscular dystrophy is characterized by a distinctive phenotype, although a wide range of clinical expressions is observed, possibly reflecting different disease progression rates or complex genetic mechanisms. To date, the diagnostic criteria for FSHD rely on identifying the genetic signature of the disease (reduced D4Z4 allele, permissive 4q allele, hypomethylation, and in some cases...
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