A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b
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- 作者：L. Corradoa ; b ; lucia.corrado@med.unipmn.it" class="auth_mail" title="E-mail the corresponding author ; S. Magric ; A. Bagarottia ; M. Carecchiod ; G. Piscosquitoe ; D. Pareysone ; C. Varrasid ; D. Vecchiod ; A. Zontaa ; R. Cantellod ; F. Taronic ; S. D'Alfonsoa ; b
- 关键词：CMT ; P0 ; MPZ ; RNA splicing ; Synonymous mutation
- 刊名：Neuromuscular Disorders
- 出版年：2016
- 出版时间：August 2016
- 年：2016
- 卷：26
- 期：8
- 页码：516-520
- 全文大小：821 K
文摘
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We identified a causative synonymous MPZ gene variant in two unrelated Charcot-Marie-Tooth patients.
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We analyzed the possible effect of this variant on MPZ mRNA splicing.
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The variant modifies the relative expression ratio of the 4 expected MPZ transcript isoforms.