Hereditary Neuropathy with Liability to Pressure Palsy: An Investigation in a Rare and Large Chinese Family
Hereditary Neuropathy with Liability to Pressure Palsy: An Investigation in a Rare and Large Chinese Family
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与压力性麻痹有关的遗传性神经病：对一个罕见的大中国家庭的调查
DOI：
10.1159/000341836
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发表时间：
2012-11
影响因子：
2.4
通讯作者：
Yuan He(何远),Qiang Wu, Zhipeng Xu, Qianqian Wang, W
中科院分区：
文献类型：
--
作者：
Yuan He(何远),Qiang Wu, Zhipeng Xu, Qianqian Wang, W
背景：易压迫性麻痹的遗传性神经病（HNPP）主要与外周髓鞘蛋白22（PMP22）基因相关，通常是一种常染色体显性遗传的外周神经病。目前这个包括四个……（句子不完整，“four ge”后面应该还有内容）的大家族
Background: Hereditary neuropathy with liability to pressure palsy (HNPP), mainly associated with the peripheral myelin protein 22 (PMP22) gene, is generally an autosomal-dominant inherited peripheral neuropathy. The present large family including four generations provides an exciting opportunity to gain important insights into HNPP in China. Patients and Methods: A large 43-member family with ten members suspected to be affected by HNPP was studied. Neurologic examinations, electrophysiological and neuropathological studies and molecular genetic testing were used for these kindred. Results: Clinically, the proband had limb hyposthenia and atrophy, and his mother showed declined tendon reflexes in the right lower limb. Electrophysiologically, sensory and motor nerve conduction velocities were generalized reduced. Sural nerve biopsy for the proband showed focal thickesning of the myelin sheaths. Furthermore, real-time quantitative PCR demonstrated that the PMP22 gene has a higher Ct value than reference gene in all suspected patients. Conclusions: These results indicated that the family is indeed a rare and large pedigree of HNPP caused by the deletion of PMP22 gene. Given that the suspected patient in the fourth generation is absent, this family is still worthy of further follow-up study.
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影响因子：
4.5
作者：
Kim HS;Choi JW;Chang SH;Lee KS
通讯作者：
Lee KS
影响因子：
2.4
作者：
Kabzinska, D.;Pierscinska, J.;Kochanski, A.
通讯作者：
Kochanski, A.
影响因子：
4.4
作者：
M. Muglia;A. Patitucci;R. Rizzi;C. Ungaro;F. Conforti;A. Gabriele;A. Magariello;R. Mazzei;L. Motti;R. Sabadini;T. Sprovieri;N. Marcello;A. Quattrone
通讯作者：
M. Muglia;A. Patitucci;R. Rizzi;C. Ungaro;F. Conforti;A. Gabriele;A. Magariello;R. Mazzei;L. Motti;R. Sabadini;T. Sprovieri;N. Marcello;A. Quattrone
DOI：
10.1053/jhsu.2002.30364
发表时间：
2002-03
期刊：
The Journal of hand surgery
影响因子：
--
作者：
Greg N Smith;Thomas S Higgins
通讯作者：
Greg N Smith;Thomas S Higgins
影响因子：
9.9
作者：
Mouton, P;Tardieu, S;Bouche, P
通讯作者：
Bouche, P