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 …

Charcot-Marie-Tooth disease type 1A is the most common form of CMT, accounting for about half of people with CMT. CMT1A is commonly referred to as “demyelinating” CMT. CMT1A, like …

2025年1月6日 · Charcot-Marie-Tooth disease (CMT) is a group of genetic conditions that affect the nerves connecting the brain and spinal cord to the rest of the body. CMT is the most …

2024年6月22日 · CMT type 1A, the most common CMT neuropathy, is caused by a 1.5-Mb duplication of chromosome 17p11.2, resulting in trisomy of PMP22. Due to its large size, this …

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. …

CMT1 is caused by damage to the myelin sheath covering nerves. CMT1 is commonly referred to as “demyelinating” CMT. A subtype of CMT1 called CMT1A (caused by a duplication or, less …

70%的遗传性CMT1A家系和90%的CMT1A散发患者是由 17号染色体 p12区域一段包含PMP22基因的1.5Mb左右的重复导致的，可用CNV-seq、CMA、MLPA等方法进行检测，此重复患者2/3为 …

CMT1A is the single most common form of Charcot-Marie-Tooth disease. This sub-type of CMT is caused by the duplication of the Peripheral Myelin Protein 22 (PMP22) gene, which leads to …

Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot …

CMT type 1A (CMT1A) is the most frequent type and accounts for almost ~50% of all diagnosed CMT cases. CMT1A results from the duplication of the peripheral myelin protein 22 (PMP22) …