...遗传性压迫易感性神经病(hereditaryneuropathywithliabilitytopressurepalsies,HNPP)是一种少见的常染色体显性遗传的周围神经病。临床表现为青少年起病,表现为复发性、无痛性单神经病或多神经...
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PMP22基因缺失与遗传性压迫易感性神经病(Hereditary neuropathy with liability to pressure palsies，HNPP)相关。有关PMP22基因突变的检测，成为诊断遗传性脱髓鞘疾病首要方法。
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PMP22基因缺失与遗传性压迫易感性神经病(Hereditary neuropathy with liability to pressure palsies，HNPP)相关。有关PMP22基因突变的检测，成为诊断遗传性脱髓鞘疾病首要方法。
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目的探讨遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressurepalsies,HNPP)的临床神经电生理改变 ..
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The PMP22 gene deletion detected by gene diagnosis is the golden criterion for the diagnosis of HNPP.
结论电生理检查对HNPP的诊断很重要，基因检测发现PMP22基因缺失是诊断HNPP的金标准。
Methods Duplications or deletions of?PMP22gene were detected in 113 CMT cases, 4 HNPP cases and 50 normal controls by using real-time quantitative PCR. Results (Thirty-six) of 113 CMT cases had the?
方法采用实时荧光定量PCR检测113个腓骨肌萎缩症家系先证者、4个遗传性压力易感性神经病家系先证者和50名正常人PMP22基因重复或缺失突变。
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