Article
GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.
Journal of the peripheral nervous system : JPNS - 1 Jun 2022
Yalcouyé Abdoulaye, Diallo Seybou H, Cissé Lassana, Karembé Mamadou, Diallo Salimata, Coulibaly Thomas, Diarra Salimata, Coulibaly Dramane, Keita Mohamed, Guinto Cheick O, Fischbeck Kenneth H, Wonkam Ambroise, Landouré Guida
Abstract excerpt
X-linked Charcot-Marie-Tooth type 1 (CMTX1) disease is one of the most common subtypes of inherited neuropathies and is caused by mutations in the GJB1 gene. To date, more than 400 mutations have been reported in GJB1 worldwide but none in sub-Saharan Africa (SSA). We aimed to clinically characterize patients with CMTX1 and identify the genetic defects. All patients were examined thoroughly, and Nerve Conduction...
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