Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

J. M. Vance*, G. A. Nicholson, L. H. Yamaoka, J. Stajich, C. S. Stewart, M. C. Speer, W. Y. Hung, A. D. Roses, D. Barker, M. A. Pericak-Vance

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

169 Citations (Scopus)

Abstract

Charcot-Marie-Tooth disease Type 1 (CMT) is an inherited neuropathy with known genetic heterogeneity, with at least one autosomal dominant form (CMT Type 1b) linked to the Duffy region of chromosome 1. Autosomal dominant families not demonstrating linkage to the Duffy blood group marker have been designated CMT Type 1a. We report linkage of six CMT Type 1a families to the chromosome 17 markers EW301 (D17S58) and pA10-41 (D17S71) with maximum LOD scores of z = 10.49 at θ (maximum recombination fraction) = 0.05 and z = 7.36 at θ = 0.06, respectively.

Original languageEnglish
Pages (from-to)186-189
Number of pages4
JournalExperimental Neurology
Volume104
Issue number2
DOIs
Publication statusPublished - 1989
Externally publishedYes

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