Charcot-Marie-Tooth disease type 1A | About the Disease | GARD
Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. People with this disease experience weakness and wasting …
CMT Type 1 - Charcot–Marie–Tooth Association
CMT1A is the most common form of CMT, comprising around 66 percent of all patients with CMT1. The disorder is caused by a duplication of the PMP22 gene on Chromosome 17. …
Biomarkers predict outcome in Charcot Marie Tooth Disease 1A
Charcot Marie Tooth disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without known cure. Among CMT1A patients, disease manifestation, …
Early abnormalities in sciatic nerve function and structure in a …
2004年11月1日 · We investigated early peripheral nervous system impairment in PMP22-transgenic rats (“CMT rat”), an established animal model for Charcot-Marie-Tooth disease 1A, …
Molecular diagnosis of Charcot-Marie-Tooth 1A disease and …
The most frequent form of Charcot-Marie-Tooth disease (CMT1A; OMIM118.220) is the result of a duplication on chromosome 17 in pll.2-p12. This region contains PMP22, a gene expressed in …
Charcot-Marie-Tooth-1A与坐骨神经压迫大鼠模型：蛋白质组学分 …
2023年1月5日 · 为进一步比较两种病理情况的蛋白质特征，实验收集了鼠龄3个月的1A型Charcot-Marie-Tooth病、坐骨神经挤压伤后1个月和未受伤的野生型大鼠远端坐骨神经，对其蛋白质进 …
Pathogenesis of Charcot–Marie–Tooth 1A (CMT1A) neuropathy
The hereditary neuropathy Charcot–Marie–Tooth (CMT) type 1A is, in the majority of cases, caused by duplication of the gene for the peripheral myelin protein PMP22, which leads to …
Charcot–Marie–Tooth disease type 1A: is ascorbic acid effective?
Charcot–Marie–Tooth disease (CMT) is the most common hereditary neuropathy, and the most common type of this disorder, CMT1A, is caused by overexpression of peripheral myelin …
Charcot-Marie-Tooth disease type 1A associated with acute
Charcot-Marie-Tooth disease type 1A associated with acute porphyric neuropathy. Charcot-Marie-Tooth disease type 1A associated with acute porphyric neuropathy Eur J Neurol. 2007 …
Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication.
1997年5月1日 · A clinical and electrophysiological study was performed in 119 Type 1A Charcot-Marie-Tooth disease (CMT1A) patients with proven 17p11.2 duplication. Onset of the first …
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