Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.

doi:10.1111/jns.12458

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Article

Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.

Journal of the peripheral nervous system : JPNS - 1 Sept 2021

Uchôa Cavalcanti Eduardo Boiteux, Santos Savana Camilla de Lima, Martins Carlos Eduardo Speck, de Carvalho Daniel Rocha, Rizzo Isabela Maria Pinto de Oliveira, Freitas Maria Cristina Del Negro Barroso, da Silva Freitas Denise, de Souza Francineide Sadala, Junior Altamir Monteiro, do Nascimento Osvaldo José Moreira

Abstract excerpt

This study aimed to describe the clinical, genetic, and epidemiological features of Charcot-Marie-Tooth disease (CMT) in Brazilian patients from a tertiary center, and to compare our data with previously published findings. This retrospective observational study conducted between February 2015 and July 2020 evaluated 503 patients (94 families and 192 unrelated individuals), diagnosed with CMT. Clinical and...

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PMID: 34190362
DOI: 10.1111/jns.12458

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