Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMT1) to apolipoprotein A2 (Apo-A2).
We studied 169 members of 15 families with Charcot-Marie-Tooth neuropathy (CMT1) showing male-to-male transmission and slow motor-nerve conduction velocities. Four of these families were informative for linkage to apolipoprotein A2 on chromosome 1 (1q21-23) with an overall lod score of 2.45 at  theta = .001. There was no statistical evidence of genetic heterogeneity.
D016633:Apolipoprotein A-II; D001054:Apolipoproteins A / Q000097:blood / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000097:blood / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D004247:DNA / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D012083:Renin / Q000235:genetics
D016633:Apolipoprotein A-II; D001054:Apolipoproteins A; D005819:Genetic Markers; D004247:DNA; D012083:Renin