Article
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
Developmental medicine and child neurology - 1 May 2010
Gika Artemis D, Siddiqui Ata, Hulse Anthony J, Edward Selvakumari, Fallon Penny, McEntagart Meriel E, Jan Wajanat, Josifova Dragana, Lerman-Sagie Tally, Drummond James, Thompson Edward, Refetoff Samuel, Bönnemann Carsten G, Jungbluth Heinz
Abstract excerpt
AIM: Mutations in the SLC16A2 gene have been implicated in Allan-Herndon-Dudley syndrome (AHDS), an X-linked learning disability* syndrome associated with thyroid function test (TFT) abnormalities. Delayed myelination is a non-specific finding in individuals with learning disability whose genetic basis is often uncertain. The aim of this study was to describe neuroimaging findings and neurological features in...
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