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

Abdoulaye YalcouyéSeybou H DialloThomas CoulibalyLassana CisséSalimata DialloOumar SamassékouSalimata DiarraDramane CoulibalyMohamed KeitaCheick O GuintoKenneth FischbeckGuida Landourénull null

Published in: Molecular genetics & genomic medicine (2019)

This is the first report of a genetically confirmed CMT2D case in Africa, expanding its genetic epidemiology. Increasing access to genetic testing may reveal more novel CMT variants or genes in the African population that could be relevant to other populations and further our understanding of their mechanism.

Keyphrases

genome wide
copy number
dna methylation
genome wide identification
risk factors
gene expression
genetic diversity
single cell
genome wide analysis
transcription factor