| MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features. | |
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MedLine Citation:
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PMID: 22805248 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Monocarboxylate transporter 8 (MCT8) deficiency is an X-linked disorder resulting from an impairment of the transcellular transportation of thyroid hormones. Within the central nervous system thyroid hormone transport is normally mediated by MCT8. Patients are described as affected by a static or slowly progressive clinical picture which consists of variable degrees of mental retardation, hypotonia, spasticity, ataxia and involuntary movements, occasionally paroxysmal. The authors describe the clinical and neuroradiological picture of 3 males patients with marked delayed brain myelination and in which the clinical picture was dominated by early onset nonparoxismal extrapyramidal symptoms. In one subject a novel mutation is described. |
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Authors:
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Davide Tonduti; Adeline Vanderver; Angela Berardinelli; Johanna L Schmidt; Christin D Collins; Francesca Novara; Antonia Di Genni; Alda Mita; Fabio Triulzi; Janice E Brunstrom-Hernandez; Orsetta Zuffardi; Umberto Balottin; Simona Orcesi |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-7-17 |
Journal Detail:
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Title: Journal of child neurology Volume: - ISSN: 1708-8283 ISO Abbreviation: - Publication Date: 2012 Jul |
Date Detail:
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Created Date: 2012-7-18 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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