A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease
Author:
Publisher
Wiley
Subject
Clinical Neurology,General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1529-8027.2012.00403.x/fullpdf
Reference11 articles.
1. A novel mutation (D305V) in the early growth response gene 2 is associated with severe Charcot-Marie-Tooth type 1 disease.;Bellone;Hum Mutat,1999
2. EGR2 mutation R 359W causes a spectrum of Dejerine-Sottas neuropathy.;Boekoel;Neurogenetics,2001
3. Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.;Mikesová;Neuromuscul Disord,2005
4. Vicristine exacerbates asymptomatic Charcot-Marie-Tooth disease with a novel EGR2 mutation.;Nakamura;Neurogenetics,2012
5. Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.;Numakura;J Neurol Sci,2003
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1. EGR2 gene‐linked hereditary neuropathies present with a bimodal age distribution at symptoms onset;Journal of the Peripheral Nervous System;2023-06-18
2. EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study;Clinical Neuropathology;2022-11-01
3. Patient-derived glial enriched progenitors repair functional deficits due to white matter stroke and vascular dementia in rodents;Science Translational Medicine;2021-04-21
4. New evidence for secondary axonal degeneration in demyelinating neuropathies;Neuroscience Letters;2021-01
5. A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy);Scientific Reports;2019-12
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