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Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.
Sivasankar Malaichamyet al., Brain. 2025

Sivasankar Malaichamy, Romane Idoux, Kiran Polavarapu, Katarina Šikić, Elisa Holla, Rachel Thompson, Sally Spendiff, Anne Schänzer, Benno Kusters, Emily Freeman, Andreas Hentschel, Daniel O'Neil, Ricardo Carmona-Martinez, Vera Dobelmann, Calvin Tucht, Meyke Schouten, Tobias Ruck, Ulrike Schara-Schmidt, Erik-Jan Kamsteeg, Danijela Petković Ramadža, Antonia Jakovčević, Tamara Zigman, Mislav Čavka, Veronika Karcagi, Agnes Herczegfalvi, Steven Laurie, Leslie Matalonga, Sergi Beltran, Rita Horvath, Nicol Voermans, Andreas Roos, Ivo Barić, Hanns Lochmüller.

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.

Brain. 2025 Aug 1;148(8):2869-2882. doi: 10.1093/brain/awaf067. PubMed ID: 39970126

 

Further Information:

DOI: 10.1093/brain/awaf067

Tobias Ruck

Kategorie/n: NND-Publikationen