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J Pediatr. 2005 Oct;147(4):552-4.

A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid.

Author information

  • 1Department of Pediatrics, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Ishikawa 920-0293, Japan. p-kaki@kanazawa-med.ac.jp

Abstract

We describe brain lesions in a patient with a monocarboxylate transporter 8 mutation. Imaging showed a high T2 lesion in the left putamen at age 3 and a right putamen lesion at age 6. Cerebrospinal fluid free thyroxine concentrations were low, with normal 3,3',5-triiodothyronine concentrations.

PMID:
16227048
DOI:
10.1016/j.jpeds.2005.05.012
[PubMed - indexed for MEDLINE]
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