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

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 com...

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Veröffentlicht in:Journal of the peripheral nervous system 2023-12, Vol.28 (4), p.614-619
Hauptverfasser: 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
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Sprache:eng
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