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    We performed whole exome sequencing on a patient with Charcot-Marie-Tooth disease type 1 and identified a de novo mutation in PMP2, the gene that encodes the myelin P2 protein. This mutation (p.Ile52Thr) was passed from the proband to his one affected son, and segregates with clinical and electrophysiological evidence of demyelinating neuropathy. We then screened a cohort of 136 European probands with uncharacterized genetic cause of Charcot-Marie-Tooth disease and identified another family with Charcot-Marie-Tooth disease type 1 that has a mutation affecting an adjacent amino acid (p.Thr51Pro), which segregates with disease. Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot-Marie-Tooth disease type 1. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email:


    William W Motley, Paulius Palaima, Sabrina W Yum, Michael A Gonzalez, Feifei Tao, Julia V Wanschitz, Alleene V Strickland, Wolfgang N Löscher, Els De Vriendt, Stefan Koppi, Livija Medne, Andreas R Janecke, Albena Jordanova, Stephan Zuchner, Steven S Scherer. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain : a journal of neurology. 2016 Jun;139(Pt 6):1649-56

    PMID: 27009151

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