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Article

X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype.

Journal of child neurology - 1 Oct 2005

Holden Kenton R, Zuñiga Oscar F, May Melanie M, Su Humberto, Molinero Marco R, Rogers R Curtis, Schwartz Charles E

Abstract excerpt

We report a family with X-linked mental retardation that has a novel mutation in the monocarboxylate transporter 8 (MCT8) gene associated with a characteristic neurodevelopmental phenotype with early childhood hypotonia that progresses to spasticity and global developmental delays. Affected patients experience moderate to severe psychomotor delays and congenital hypotonia, develop a myopathic facies, have...

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Identifiers

PMID: 16417886
DOI: 10.1177/08830738050200101601

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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