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