Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort
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 clinic...
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Thieme Revinter Publicações
2025-04-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1806820 |
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| author | Eduardo Boiteux Uchôa Cavalcanti Savana Camilla de Lima Santos Christian Marques Couto Galeno Vieira Rocha Maria Cristina Del Negro Barroso Freitas Osvaldo José Moreira do Nascimento |
| author_facet | Eduardo Boiteux Uchôa Cavalcanti Savana Camilla de Lima Santos Christian Marques Couto Galeno Vieira Rocha Maria Cristina Del Negro Barroso Freitas Osvaldo José Moreira do Nascimento |
| author_sort | Eduardo Boiteux Uchôa Cavalcanti |
| collection | DOAJ |
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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. |
| format | Article |
| id | doaj-art-464545e43ac1436aa9f1cece6047c1c1 |
| institution | Kabale University |
| issn | 0004-282X 1678-4227 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-464545e43ac1436aa9f1cece6047c1c12025-08-20T03:36:14ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria0004-282X1678-42272025-04-01830400100810.1055/s-0045-1806820Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohortEduardo Boiteux Uchôa Cavalcanti0https://orcid.org/0000-0001-7763-7745Savana Camilla de Lima Santos1https://orcid.org/0009-0001-0615-0777Christian Marques Couto2https://orcid.org/0000-0001-7479-4489Galeno Vieira Rocha3https://orcid.org/0009-0007-7033-7775Maria Cristina Del Negro Barroso Freitas4https://orcid.org/0009-0005-3485-3057Osvaldo José Moreira do Nascimento5https://orcid.org/0000-0003-3516-485XRede SARAH de Hospitais de Reabilitação, Ambulatório de Reabilitação Neurológica, Brasília DF, Brazil.Rede SARAH de Hospitais de Reabilitação, Labotatório de Patologia Molecular, Brasília DF, Brazil.Rede SARAH de Hospitais de Reabilitação, Ambulatório de Reabilitação Neurológica, Rio de Janeiro RJ, Brazil.Rede SARAH de Hospitais de Reabilitação, Ambulatório de Reabilitação Neurológica, Fortaleza CE, Brazil.Rede SARAH de Hospitais de Reabilitação, Ambulatório de Reabilitação Neurológica, Brasília DF, Brazil.Universidade Federal Fluminense, Hospital Universitário Antônio Pedro, Niterói RJ, Brazil. 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1806820Hereditary Sensory and Motor NeuropathyCharcot-Marie-Tooth DiseaseEarly Growth Response Protein 2 |
| spellingShingle | Eduardo Boiteux Uchôa Cavalcanti Savana Camilla de Lima Santos Christian Marques Couto Galeno Vieira Rocha Maria Cristina Del Negro Barroso Freitas Osvaldo José Moreira do Nascimento Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort Arquivos de Neuro-Psiquiatria Hereditary Sensory and Motor Neuropathy Charcot-Marie-Tooth Disease Early Growth Response Protein 2 |
| title | Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort |
| title_full | Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort |
| title_fullStr | Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort |
| title_full_unstemmed | Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort |
| title_short | Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort |
| title_sort | genetic and clinical spectrum of early growth response 2 related charcot marie tooth disease in a brazilian cohort |
| topic | Hereditary Sensory and Motor Neuropathy Charcot-Marie-Tooth Disease Early Growth Response Protein 2 |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1806820 |
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