Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.
Bmc Research Notes
Cuperman, Thais T; Fernandes, Stephanie A SA; Lourenço, Naila C V NC; Yamamoto, Lydia U LU; Silva, Helga C A HC; Pavanello, Rita C M RC; Yamamoto, Guilherme L GL; Zatz, Mayana M; Oliveira, Acary S B AS; Vainzof, Mariz M