Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders

Mehrdad A. Estiar, Eric Yu, Parizad Varghaei, Jay P. Ross, Setareh Ashtiani, Andrew N. Bayne, Giulia Coarelli, Dagmar Timmann, Thomas Klockgether, Danique Beijer, David Mengel, Marie Coutelier, , Patrick A. Dion, Oksana Suchowersky, Claire Ewenczyk, Cyril Goizet, Giovanni Stevanin, Philip Van Damme, Ammar Al-Chalabi, Stephan Zuchner, Matthis Synofzik, Jan H. Veldink, Jean-Francois Trempe, Alexandra Durr, Guy A. Rouleau, Ziv Gan-Or
BMC Medicine. 2026-03-24; 24(1):
DOI: 10.1186/s12916-026-04805-z

---