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Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants.

J Neurol

January 2025

Department of Neurology, School of Medical Sciences, University of Campinas-UNICAMP, Universitaria "Zeferino Vaz", Rua Tessália Vieira de Camargo, 126. Cidade, Campinas, SP, 13083-887, Brazil.

Background: Skeletal and cardiac muscle damage have been increasingly recognized in female carriers of DMD pathogenic variants (DMDc). Little is known about cognitive impairment in these women or whether they have structural brain damage.

Objective: To characterize the cognitive profile in a Brazilian cohort of DMDc and determine whether they have structural brain abnormalities using multimodal MRI.

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