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, , Ziv Gan‐Or
This study identifies digenic inheritance of SPG7 and AFG3L2 mutations as a cause of motor neuron and cerebellar disorders in 17 patients.
BMC Medicine · Mar 24, 2026Peer-reviewedGenetic & Genomic Medicine