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Article

Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.

The Journal of clinical endocrinology and metabolism - 1 Dec 2014

López-Espíndola Daniela, Morales-Bastos Carmen, Grijota-Martínez Carmen, Liao Xiao-Hui, Lev Dorit, Sugo Ella, Verge Charles F, Refetoff Samuel, Bernal Juan, Guadaño-Ferraz Ana

Abstract excerpt

CONTEXT: Mutations in the MCT8 (SLC16A2) gene, encoding a specific thyroid hormone transporter, cause an X-linked disease with profound psychomotor retardation, neurological impairment, and abnormal serum thyroid hormone levels. The nature of the central nervous system damage is unknown. OBJECTIVE: The objective of the study was to define the neuropathology of the syndrome by analyzing brain tissue sections from...

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Identifiers

PMID: 25222753
DOI: 10.1210/jc.2014-2162
PMCID: PMC4255116

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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