期刊
JOURNAL OF CHILD NEUROLOGY
卷 28, 期 6, 页码 792-797出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073812450944
关键词
MCT8; X-linked; leukodystrophy; hypomyelination; movement disorder; extrapyramidal; thyroid
资金
- NINDS NIH HHS [K08 NS060695] Funding Source: Medline
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据