Article
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
Brain : a journal of neurology - 1 Nov 2017
Kariminejad Ariana, Dahl-Halvarsson Martin, Ravenscroft Gianina, Afroozan Fariba, Keshavarz Elham, Goullée Hayley, Davis Mark R, Faraji Zonooz Mehrshid, Najmabadi Hossein, Laing Nigel G, Tajsharghi Homa
Abstract excerpt
See Ginevrino and Valente (doi:10.1093/brain/awx260) for a scientific commentary on this article. Autosomal dominant torsion dystonia-1 is a disease with incomplete penetrance most often caused by an in-frame GAG deletion (p.Glu303del) in the endoplasmic reticulum luminal protein torsinA encoded by TOR1A. We report an association of the homozygous dominant disease-causing TOR1A p.Glu303del mutation, and a novel...
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