Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.
Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Galleni Leão, Leonardo L; Santos Souza, Lucas L; Nogueira, Letícia L; Pavanello, Rita de Cássia Mingroni RCM; Gurgel-Giannetti, Juliana J; Reed, Umbertina C UC; Oliveira, Acary S B ASB; Cuperman, Thais T; Cotta, Ana A; FPaim, Julia J; Zatz, Mayana M; Vainzof, Mariz M
Publication Date: 2020-12
Variant appearance in text: RYR1: 14741G>T; Arg4914Met