A novel mutation in the GARS gene in a Malian family with Charcot‐Marie‐Tooth disease

BACKGROUND: Charcot‐Marie‐Tooth (CMT) disease is a very heterogeneous neurological condition with more than 90 reported genetic entities. It is the most common inherited peripheral neuropathy; however, cases are rarely reported in sub‐Saharan Africa. In addition, only few families, mostly of Caucasi...

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Bibliografische gegevens
Gepubliceerd in:Mol Genet Genomic Med
Hoofdauteurs: Yalcouyé, Abdoulaye, Diallo, Seybou H., Coulibaly, Thomas, Cissé, Lassana, Diallo, Salimata, Samassékou, Oumar, Diarra, Salimata, Coulibaly, Dramane, Keita, Mohamed, Guinto, Cheick O., Fischbeck, Kenneth, Landouré, Guida
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2019
Onderwerpen:
Clinical Reports
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625146/
https://ncbi.nlm.nih.gov/pubmed/31173493
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.782
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