Article
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.
European journal of human genetics : EJHG - 1 May 2026
Zanotti Simona, Magri Francesca, Salani Sabrina, Napoli Laura, Ripolone Michela, Pagliarani Serena, Ronchi Dario, Fortunato Francesco, Ciscato Patrizia, Cassandrini Denise, Fattori Fabiana, D'Angelo Maria Grazia, Albamonte Emilio, Nigro Vincenzo, Sciacco Monica, Corti Stefania, Comi Giacomo Pietro, Piga Daniela
Abstract excerpt
Core myopathies are congenital diseases with clinical, pathological and genetic heterogeneity. Main histological features are fiber "cores" showing a focally reduced oxidative enzyme activity. Dusty Core Disease (DuCD) differs from Central Core Myopathy for the presence of irregular areas, without clear borders and round/ovoidal shape, and myofibrillar disorganization characterized by reddish purple granular...
Topics
- Humans
- Ryanodine Receptor Calcium Release Channel
- Female
- Male
- Mutation
- Italy
- Adult
- Child
- Phenotype
- Myopathy, Central Core