Article
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.
Cold Spring Harbor molecular case studies - 1 Nov 2017
Tan Queenie K-G, McConkie-Rosell Allyn, Juusola Jane, Gustafson Kathryn E, Pizoli Carolyn E, Buckley Anne F, Jiang Yong-Hui
Abstract excerpt
GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome and lethal arthrogryposis with anterior horn cell disease; phenotypes reported in individuals include fetal akinesia and a severe form of motor neuron disease, typically presenting with prenatal...
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