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Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.

Pediatric neurology - 1 Sept 2014

Kobayashi Satoru, Onuma Akira, Inui Takehiko, Wakusawa Keisuke, Tanaka Soichiro, Shimojima Keiko, Yamamoto Toshiyuki, Haginoya Kazuhiro

Abstract excerpt

BACKGROUND: Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associated with defects in the monocarboxylate transporter 8 gene (MCT8). The long-term prognosis of Allan-Herndon-Dudley syndrome remains uncertain. PATIENTS: We describe the clinical features and course of four adults in a...

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PMID: 25160547
DOI: 10.1016/j.pediatrneurol.2014.05.004

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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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