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...

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Veröffentlicht in:	American journal of human genetics 1988, Vol.42 (1), p.74-76
Hauptverfasser:	IONASESCU, V, ANDERSON, R, BURNS, T. L, SEARBY, C, IONASESCU, R, FERRELL, R
Format:	Artikel
Sprache:	eng
Schlagworte:	Apolipoprotein A-II Apolipoproteins A - blood Apolipoproteins A - genetics Biological and medical sciences Charcot-Marie-Tooth Disease - blood Charcot-Marie-Tooth Disease - genetics Chromosomes, Human, Pair 1 Diseases of striated muscles. Neuromuscular diseases DNA - genetics Female Genetic Linkage Genetic Markers Humans Lod Score Male Medical sciences Muscular Atrophy, Spinal - genetics Neurology Renin - genetics
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Zusammenfassung:	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.
ISSN:	0002-9297 1537-6605