An Elderly Woman with Complaints of Pain and Hearing Loss, Diagnosed with CMT1A with <i>PMP22</i> Duplication
Author:
Affiliation:
1. Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/63/2/63_1883-23/_pdf
Reference21 articles.
1. 1. Timmerman V, Nelis E, Van Hul W, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1: 171-175, 1992.
2. 2. Bjelica B, Peric S, Basta I, et al. Neuropathic pain in patients with Charcot-Marie-Tooth type 1A. Neurol Sci 41: 625-630, 2020.
3. 3. Braathen GJ. Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurol Scand 126: 1-22, 2012.
4. 4. Karadima G, Floroskufi P, Koutsis G, Vassilopoulos D, Panas M. Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients. Clin Genet 80: 497-499, 2011.
5. 5. Marques W Jr, Freitas MR, Nascimento OJ, et al. 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population. J Neurol 252: 972-979, 2005.
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