Screening of the early growth response 2 gene in Japanese patients with Charcot–Marie–Tooth disease type 1
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference26 articles.
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4. Clinical phenotypes of different MPZ (P0) mutations may include Charcot–Marie–Tooth type 1B, Dejerine–Sottas, and congenital hypomyelination;Warner;Neuron,1996
5. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies;Warner;Nat. Genet.,1998
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1. 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
2. Congenital and Early Infantile Neuropathies;Neuromuscular Disorders of Infancy, Childhood, and Adolescence;2015
3. Molecular analysis of the genes causing recessive demyelinating Charcot–Marie–Tooth disease in Japan;Journal of Human Genetics;2013-03-07
4. An Algorithm for Genetic Testing of Serbian Patients with Demyelinating Charcot-Marie-Tooth;Genetic Testing and Molecular Biomarkers;2013-01
5. Genetic epidemiology of Charcot-Marie-Tooth disease;Acta Neurologica Scandinavica;2012-10-29
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