夏科-马里-图思病2F型：一个多代家族中精氨酸136突变为亮氨酸的热休克蛋白27（HSP27）突变的表型表现
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
作者信息
Stancanelli Claudia, Fabrizi Gian Maria, Ferrarini Moreno, Cavallaro Tiziana, Taioli Federica, Di Leo Rita, Russo Massimo, Gentile Luca, Toscano Antonio, Vita Giuseppe, Mazzeo Anna
机构信息
Department of Neurosciences, University of Messina, Messina, Italy,
出版信息
Neurol Sci. 2015 Jun;36(6):1003-6. doi: 10.1007/s10072-014-2050-8. Epub 2014 Dec 30.
Mutations in the small heat-shock protein HSP27 gene are associated with distal hereditary motor neuropathy and with the axonal form of Charcot-Marie-Tooth disease type 2. We present the clinical and electrophysiological data on a multigenerational family with the p.Arg136Leu HSP27 mutation. Atypical features such as deafness and pyramidal signs were present in our cases adding new data to the large spectrum of HSP27-related phenotype.
小分子热休克蛋白HSP27基因的突变与远端遗传性运动神经病以及2型遗传性运动感觉神经病的轴索性类型相关。我们展示了一个携带p.Arg136Leu HSP27突变的多代家族的临床和电生理数据。我们的病例中存在诸如耳聋和锥体束征等非典型特征，为HSP27相关表型的广泛谱系增添了新数据。
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