Article
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.
Endocrinology - 1 May 2008
Jansen Jurgen, Friesema Edith C H, Kester Monique H A, Schwartz Charles E, Visser Theo J
Abstract excerpt
Loss-of-function mutations in thyroid hormone transporter monocarboxylate transporter 8 (MCT8) lead to severe X-linked psychomotor retardation and elevated serum T(3) levels. Most patients, for example those with mutations V235M, S448X, insI189, or delF230, cannot stand, walk, or speak. Patients with mutations L434W, L568P, and S194F, however, walk independently and/or develop some dysarthric speech. To study the...
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