Evidence for non-Mendelian inheritance in spastic paraplegia 7
Mehrdad A. Estiar, Eric Yu, Ikhlass Haj Salem, Jay P. Ross, Kheireddin Mufti, Fulya Akçimen, Etienne Léveillé, Dan Spiegelman, Jennifer A. Ruskey, Farnaz Asayesh, Alain Dagher, Grace Yoon, Mark Andrew Tarnopolsky, Kym M. Boycott, Nicolas Dupré, , Ziv Gan‐Or
The paper investigates the inheritance pattern of SPG7 variants in hereditary spastic paraplegia, finding evidence of non-Mendelian inheritance including heterozygous variants and digenic/epistatic interactions.
Movement Disorders · Feb 17, 2021Peer-reviewedGenetic & Genomic Medicine