Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle
显性横纹肌溶解症与复发性 ATP2A2 变异体有关,该变异体可降低肌肉中 SERCA2 的功能。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awaf067
Malaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Šikić, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schänzer, Anne; Küsters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadža, Danijela Petković; Jakovčević, Antonia; Žigman, Tamara; Čavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Barić, Ivo; Lochmüller, Hanns