Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing
Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Lin, J. Parmar, Annarita Scardamaglia, Reza Maroofian, Gabriel Aughey, Abigail D. Wilson, Simon A. Lowe, Riccardo Curró, Ricardo Parolin Schnekenberg, Shahryar Alavi, Leif Leclaire, , Henry Houlden
The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.
medRxiv · May 10, 2024 · PreprintGenetic & Genomic Medicine