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Article

Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.

Journal of the peripheral nervous system : JPNS - 1 Mar 2024

Figueiredo Fernanda Barbosa, Tomaselli Pedro José, Hallak Jaime, Mattiello-Sverzut Ana Cláudia, Covaleski Anna Paula Paranhos Miranda, Sobreira Cláudia Ferreira da Rosa, de Paula Gouvêa Silmara, Marques Wilson

Abstract excerpt

BACKGROUND AND AIMS: The genetic epidemiology of inherited neuropathies in children remains largely unknown. In this study, we specifically investigated the genetic profile of a Brazilian cohort of pediatric patients with pure or complex axonal neuropathies, a crucial knowledge in the near future for establishing treatment priorities and perspectives for this group of patients. METHODS: Fifty-three pediatric...

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PMID: 38375759
DOI: 10.1111/jns.12617

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