Article

Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination

2019-11-15

Abstract excerpt

<h4>ABSTRACT</h4> The form of Charcot-Marie-Tooth type 4B (CMT4B) disease caused by mutations in myotubularin-related 5 ( MTMR5 ; also called SET Binding Factor 1; SBF1 ) shows a spectrum of axonal and demyelinating nerve phenotypes. This contrasts with the CMT4B subtypes caused by MTMR2 or MTMR13 ( SBF2 ) mutations, which are characterized by myelin outfoldings and classic demyelination. Thus, it is unclear...

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Literature Corpus work: 11e708eb-535c-5dcd-b099-f326c531a541
DOI: 10.1101/843219

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