Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers.
A large kindred with sex-linked recessive inheritance of Charcot-Marie-Tooth disease is presented. Partial clinical manifestations without functional disability and decreased nerve conduction velocity was demonstrated in the female heterozygotes.
D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics*; D009431:Neural Conduction; D010375:Pedigree; D012730:Sex Chromosomes; D014960:X Chromosome