Publications by authors named "Gustavo Maximiano-Alves"
Neuromuscular disorders affect almost 20 million people worldwide. Advances in molecular diagnosis have provided valuable insights into neuromuscular disorders, allowing for improved standards of care and targeted therapeutic approaches. Despite this progress, access to genomic diagnosis remains scarce and inconsistent in middle-income countries such as Brazil.
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- 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.