Article
A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.
Clinical genetics - 1 Jan 2018
Paakkola T, Vuopala K, Kokkonen H, Ignatius J, Valkama M, Moilanen J S, Fahiminiya S, Majewski J, Hinttala R, Uusimaa J
Abstract excerpt
Mutations in GLE1, RNA export mediator (GLE1) gene have previously been shown to cause motor neuron diseases such as lethal congenital contracture syndrome 1 (LCCS1) and lethal arthrogryposis with anterior horn cell disease (LAAHD), including arthrogryposis, fetal akinesis and motor neuron loss as common clinical features. The homozygous FinMajor mutation p.T144_E145insPFQ has been described as one of the causes...
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