Article
Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter.
European journal of pediatrics - 1 Jul 2008
Namba Noriyuki, Etani Yuri, Kitaoka Taichi, Nakamoto Yasuko, Nakacho Mariko, Bessho Kazuhiko, Miyoshi Yoko, Mushiake Sotaro, Mohri Ikuko, Arai Hiroshi, Taniike Masako, Ozono Keiichi
Abstract excerpt
UNLABELLED: Thyroid hormones are known to be essential for growth, development, and metabolism. Recently, the monocarboxylate transporter 8 (MCT8) was identified as a thyroid hormone transporter, and MCT8 mutations have been associated with Allan-Herndon-Dudley syndrome, an X linked condition characterized by severe mental retardation, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia....
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