A Novel Variant in Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report

by Alexa Derksen MSc, Amytice Mirchi MD, Luan T. Tran MSc, Lei Cao-Lei PhD, MSc, Maryam Oskoui MD, Myriam Srour MD, Chantal Poulin MD, Geneviève Bernard MD, MSc, FRCPc
Published 2021-07-01

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

by Alexa Derksen, Hung-Yu Shih, Diane Forget, Lama Darbelli, Luan T. Tran, Christian Poitras, Kether Guerrero, Sundaresan Tharun, Fowzan S. Alkuraya, Wesam I. Kurdi, Cam-Tu Emilie Nguyen, Anne-Marie Laberge, Yue Si, Marie-Soleil Gauthier, Joshua L. Bonkowsky, Benoit Coulombe, Geneviève Bernard
Published 2021-07-01