Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.

Abstract

We report a novel 1 bp deletion (c.1834delC) in the MCT8 gene in a large Brazilian family with Allan-Herndon-Dudley syndrome (AHDS), an X linked condition characterised by severe mental retardation and neurological dysfunction. The c.1834delC segregates with the disease in this family and it was not present in 100 control chromosomes, further confirming its… (More)

Topics

4 Figures and Tables

Cite this paper

@article{Maranduba2006DecreasedCU, title={Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.}, author={Carlos Magno da Costa Maranduba and Edith C H Friesema and Fernando Kok and Mark Kester and J. Jansen and Andr{\'e}a Laurato Serti{\'e} and Maria Rita Santos Passos-Bueno and Ton J. Visser}, journal={Journal of medical genetics}, year={2006}, volume={43 5}, pages={457-60} }