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

Fernanda Barbosa Figueiredo Pedro José TomaselliJaime HallakAna Cláudia Mattiello-SverzutAnna Paula Paranhos Miranda CovaleskiCláudia Ferreira da Rosa SobreiraSilmara de Paula GouvêaOswaldo Wiliam Marques Junior

Published in: Journal of the peripheral nervous system : JPNS (2024)

Apart from MFN2 and GJB1 genes, universally recognized as a frequent cause of axonal neuropathies in most studied population, our Brazilian cohort of children with axonal neuropathies showed an important genetic heterogeneity, probably reflecting the multi ethnicity of the Brazilian population. Diagnostic, counseling, and future interventions should consider this characteristic.

Keyphrases

genetic diversity
spinal cord injury
young adults
genome wide
optic nerve
physical activity
single cell
gene expression
current status
human immunodeficiency virus
hiv testing
solid state