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Wiley, Journal of the Peripheral Nervous System, 1(20), p. 52-59, 2015

DOI: 10.1111/jns.12106

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Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons

Journal article published in 2015 by Andreas Roos, Joachim Weis ORCID, Henry Fehrenbach, Rudolf Korinthenberg, Martin Häusler, Stephan Züchner, Christoph Mache, Holger Hubmann, Michaela Auer-Grumbach, Jan Senderek
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Question: Mutations in the gene encoding inverted formin FH2 and WH2 domain containing protein (INF2), a Cdc42 effector involved in the regulation of actin dynamics, cause focal segmental glomerulosclerosis (FSGS) and intermediate Charcot-Marie-Tooth neuropathy combined with FSGS (FSGS-CMT). Here, we[for full text, please go to the a.m. URL] ; SeriesInformation ; 60th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)