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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625146/ https://www.ncbi.nlm.nih.gov/pubmed/31173493 http://dx.doi.org/10.1002/mgg3.782 |