Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek*, Carsten Bergmann, Claudia Stendel, Jutta Kirfel, Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman, Roman Chrast, Mark H.G. Verheijen, Greg Lemke, Esra Battaloglu, Yesim Parman, Sevim Erdem, Ersin Tan, Haluk Topaloglu, Andreas Hahn, Wolfgang Müller-Felber, Nicolò Rizzuto, Gian Maria Fabrizi, Manfred StuhrmannSabine Rudnik-Schöneborn, Stephan Züchner, J. Michael Schröder, Eckhard Buchheim, Volker Straub, Jörg Klepper, Kathrin Huehne, Bernd Rautenstrauss, Reinhard Büttner, Eva Nelis, Klaus Zerres

*Corresponding author for this work
149 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology