Reports Outline Charcot-Marie-Tooth Disease Study Results from S. Nouioua et al

2012 FEB 20 -- Fresh data on Charcot-Marie-Tooth disease are presented in the report "Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. 'Autosomal recessive Charcot-Marie-Tooth diseases, relatively common in Algeria due to high prevalence of consanguineous marriages, are clinically and genetically heterogeneous. We report on two consanguineous families with demyelinating autosomal recessive Charcot-Marie-Tooth disease (CMT4) associated with novel homozygous mutations in the MTMR2 gene, c.331dupA (p.Arg111LysfsX24) and PRX gene, c.1090C >T (p.Arg364X) respectively, and peculiar clinical phenotypes,"...

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