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首页> 外文期刊>Journal of neurology >Inflammatory demyelinating CNS disorder in a case of X-linked Charcot-Marie-Tooth disease: positive response to natalizumab.
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Inflammatory demyelinating CNS disorder in a case of X-linked Charcot-Marie-Tooth disease: positive response to natalizumab.

机译:X连锁Charcot-Marie-Tooth病的炎症性脱髓鞘中枢神经系统疾病:对那他珠单抗的阳性反应。

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摘要

Charcot-Marie-Tooth (CMT) is an inherited peripheral neuropathy affecting approximately 1 in 2,500-3,000 [1]. X-linked CMT (CMTX) is caused by mutations in the gene encoding connexin 32 (Cx32) [2, 3]. Cx32 is a gap junction protein expressed in many cell types including both Schwann cells and oligodendrocytes [4]. The latter is probably responsible for the subclinical, and rarely transient clinical, CNS involvement that has been documented in CMTX [5-9].
机译:Charcot-Marie-Tooth(CMT)是一种遗传性周围神经病变,约影响2500-3,000的1 [1]。 X连锁CMT(CMTX)是由编码连接蛋白32(Cx32)的基因突变引起的[2,3]。 Cx32是在许多细胞类型(包括雪旺氏细胞和少突胶质细胞)中表达的间隙连接蛋白[4]。后者可能是导致CMTX [5-9]中记录的亚临床,很少为短暂的临床中枢神经系统受累的原因。

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