Article
Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy.
Human molecular genetics - 29 Sept 2020
Motyl Anna A L, Faller Kiterie M E, Groen Ewout J N, Kline Rachel A, Eaton Samantha L, Ledahawsky Leire M, Chaytow Helena, Lamont Douglas J, Wishart Thomas M, Huang Yu-Ting, Gillingwater Thomas H
Abstract excerpt
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed a limited therapeutic time window and systemic aspects of the disease. This raises a fundamental question of whether SMA has presymptomatic, developmental components to disease pathogenesis. We have...
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