INF2Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy
- 22 December 2011
- journal article
- research article
- Published by Massachusetts Medical Society in The New England Journal of Medicine
- Vol. 365 (25), 2377-2388
- https://doi.org/10.1056/nejmoa1109122
Abstract
Charcot–Marie–Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying the neuropathy and FSGS remain unknown. Mutations in INF2 were recently identified in patients with autosomal dominant FSGS. INF2 encodes a formin protein that interacts with the Rho-GTPase CDC42 and myelin and lymphocyte protein (MAL) that are implicated in essential steps of myelination and myelin maintenance. We therefore hypothesized that INF2 may be responsible for cases of Charcot–Marie–Tooth neuropathy associated with FSGS.This publication has 29 references indexed in Scilit:
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