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您的检索式：作者名="Liangshun You"
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| 1 | Somatic Mutations Confer Severe Peripheral Neuropathy in POEMS Syndrome-Associated Multicentric Castleman Disease显示文摘Dear Editor,POEMS-associated multicentric Castleman disease(POEMS-MCD)is a subtype of MCD that presents POEMS symptoms(polyneuropathy,organomegaly,endocrinopathy,M protein,and skin changes)as well as the manifestations of MCD.Among these symptoms,polyneuropathy is a critical feature.However,its mechanism remains poorly understood.The present study presents a case of severe peripheral neuropathy in a POEMSMCD patient.Whole-exome sequencing(WES),threedimensional modeling,and protein stability analysis demonstrated that the mutation V49G in PDLIM5 resulted in instability of the protein,which may play a key role in the pathogenesis of peripheral neuropathy in POEMSMCD. | Qingqing Lin Juying Wei Jiejing Qian Liangshun You Wenbin Qian | 2020 | Neuroscience Bulletin2020，36，6： | 3 |
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