Publications by authors named "Bianca Mara Alves Andrade"
J Peripher Nerv Syst
December 2023
Article Synopsis
- X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) is a rare genetic disorder caused by mutations in the PDK3 gene, with only three previously reported families from Australia, South Korea, and Germany; this study focuses on two Brazilian families affected by the condition.
- The researchers utilized clinical assessments, electrophysiological evaluations, and whole-exome sequencing to investigate the disease's genetic basis and observed varying symptoms between affected males and females within the families.
- The study identifies a new variant in the PDK3 gene and finds similarities in the clinical presentations across the different families, emphasizing the importance of global collaboration in understanding rare genetic disorders like CMTX6.
