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Article

Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.

Journal of the peripheral nervous system : JPNS - 1 Dec 2023

Maciel Victor Augusto Zanesi, Maximiano-Alves Gustavo, Frezatti Rodrigo Siqueira Soares, Alves Anna Letícia De Moraes, Andrade Bianca Mara Alves, Leal Rita De Cassia Carvalho, Tomaselli Pedro José, Reilly Mary M, Marques Wilson

Abstract excerpt

BACKGROUND AND AIMS: X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) is an extremely rare condition associated with mutations in the PDK3 gene. To date, only three families from different countries have been reported (Australia, South Korea, and Germany). In this study, we sought to provide a comprehensive clinical and electrophysiological characterization of two Brazilian families. METHODS: We conducted...

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PMID: 37849068
DOI: 10.1111/jns.12601

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