Article
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Acta neuropathologica communications - 15 Apr 2022
Fusto Aurora, Cassandrini Denise, Fiorillo Chiara, Codemo Valentina, Astrea Guja, D'Amico Adele, Maggi Lorenzo, Magri Francesca, Pane Marika, Tasca Giorgio, Sabbatini Daniele, Bello Luca, Battini Roberta, Bernasconi Pia, Fattori Fabiana, Bertini Enrico Silvio, Comi Giacomo, Messina Sonia, Mongini Tiziana, Moroni Isabella, Panicucci Chiara, Berardinelli Angela, Donati Alice, Nigro Vincenzo, Pini Antonella, Giannotta Melania, Dosi Claudia, Ricci Enzo, Mercuri Eugenio, Minervini Giovanni, Tosatto Silvio, Santorelli Filippo, Bruno Claudio, Pegoraro Elena
Abstract excerpt
Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myopathy (cores and minicores) for RYR1 mutation. At least one RYR1 mutation was identified in 69 of them and these patients were further studied. Clinical and histopathological...
Topics
- Humans
- Muscle, Skeletal
- Mutation
- Myopathies, Structural, Congenital
- Myopathy, Central Core
- Ryanodine Receptor Calcium Release Channel