DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia - Traverso, Monica; Baratto, Serena; Iacomino, Michele; Di Duca, Marco; Panicucci, Chiara; Casalini, Sara; Grandis, Marina; Falace, Antonio; Torella, Annalaura; Picillo, Esther; Onore, Maria Elena; Politano, Luisa; et al. (European journal of human genetics : EJHG, 2024)
Keywords: Biopsy; Creatine kinase; Dystroglycan; Dystroglycans - genetics; Dystroglycans - metabolism; Dystrophin; Genetic counseling; Genetic screening; Haploinsufficiency; Humans; mRNA turnover; Muscle, Skeletal - pathology; Muscular Diseases - pathology; Muscular Dystrophies - genetics; Muscular dystrophy; Nonsense-mediated mRNA decay; Phenotypes; Serum levels; Skeletal muscle