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

Abstract 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...

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Principais autores: Abdoulaye Yalcouyé, Seybou H. Diallo, Thomas Coulibaly, Lassana Cissé, Salimata Diallo, Oumar Samassékou, Salimata Diarra, Dramane Coulibaly, Mohamed Keita, Cheick O. Guinto, Kenneth Fischbeck, Guida Landouré, The H3Africa Consortium
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2019-07-01
coleção:Molecular Genetics & Genomic Medicine
Assuntos:
CMT
CMT2D
GARS
Mali
novel mutation
Acesso em linha:https://doi.org/10.1002/mgg3.782
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