Open access
Aug 2026
ATXN2 Spectrum Disorders
This work analyzes how ATXN2's inheritance mode may shift based on repeat interruptions, somatic mosaicism, and gene dosage, suggesting that loss-of-function mechanisms contribute to pathogenesis in certain contexts.
J. Laffita-Mesa, M. Paucar, P. Svenningsson
· Neurology: Genetics · 0 citations