Membrane defects and genetic redundancy: Are we at a turning point for DYT1 dystonia?
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.26880
Abstract: Heterozygosity for a 3‐base pair deletion (ΔGAG) in TOR1A/torsinA is one of the most common causes of hereditary dystonia. In this review, we highlight current understanding of how this mutation causes disease from research spanning… read more here.
Keywords: gag; defects genetic; dystonia; genetic redundancy ... See more keywords