Charcot-Marie-Tooth disease with sex-linked inheritance, linkage studies and abnormal serum alkaline phosphatase levels.
A family with Charcot-Marie-Tooth disease (CMT) is described. An irregular dominant sex-linked inheritance is observed. No linkage relationship between the Xg(a) blood group locus and the CMT locus was established. Abnormal values of the serum alkaline phosphatase level were found in affected and unaffected members.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000469:Alkaline Phosphatase / Q000097:blood*; D002607:Charcot-Marie-Tooth Disease / Q000201:enzymology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics*
D000469:Alkaline Phosphatase