Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort.

doi:10.1055/s-0045-1806820

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Article

Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort.

Arquivos de neuro-psiquiatria - 1 Apr 2025

Cavalcanti Eduardo Boiteux Uchôa, Santos Savana Camilla de Lima, Couto Christian Marques, Rocha Galeno Vieira, Freitas Maria Cristina Del Negro Barroso, Nascimento Osvaldo José Moreira do

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a genetically diverse group of hereditary neuropathies. Most studies on the frequency of CMT subtypes report that the early growth response 2 (EGR2) gene accounts for less than 1% of cases. However, data regarding the epidemiology and clinical characteristics of EGR2-related CMT in Central and South America remain limited. OBJECTIVE: To characterize the clinical...

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Topics

Humans
Charcot-Marie-Tooth Disease
Male
Female
Brazil
Retrospective Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Early Growth Response Protein 2

Adult

Adolescent

Young Adult

Mutation

Child

Neural Conduction

Middle Aged

Age of Onset

Source

Open in PubMed Open full text

Identifiers

PMID: 40262821
DOI: 10.1055/s-0045-1806820
PMCID: PMC12020502

Genes

EGR2

Variants

Provenance

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