Autosomal recessive inheritance of Charcot-Marie-Tooth disease associated with sensorineural deafness.
Three siblings with a combination of sensorineural deafness and the Charcot-Marie-Tooth syndrome have been investigated in a consanguineous Indian kindred. This syndrome, which to the best of our knowledge has not previously been reported, is probably inherited as an autosomal recessive trait.
D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D003241:Consanguinity; D003638:Deafness / Q000150:complications / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics*; D010375:Pedigree