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PMID: 2707366 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Experimental neurology ·Vol. 104 ·No. 2 ·1989-05-00 ·Pages 186-9

Vance JM, Nicholson GA, Yamaoka LH, Stajich J, Stewart CS, Speer MC, Hung WY, Roses AD, Barker D, Pericak-Vance MA

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 zeta = 10.49 at theta (maximum recombination fraction) = 0.05 and zeta = 7.36 at theta = 0.06, respectively.

MeSH Terms
Charcot-Marie-Tooth Disease/genetics Chromosome Aberrations/genetics Chromosome Disorders Chromosomes, Human, Pair 17 DNA/analysis Female Genetic Linkage Humans Lod Score Male Muscular Atrophy, Spinal/genetics Recombination, Genetic
Chemicals
DNA
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Vance J M
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
Nicholson G A
Yamaoka L H
Stajich J
Stewart C S
Speer M C
Hung W Y
Roses A D
Barker D
Pericak-Vance M A
Article Info
Journal
Experimental neurology
Abbr.
Exp Neurol
ISSN
0014-4886
Published
1989-05-00
Pages
186-9
Language
English
Region
United States
NLM ID
0370712
Subset
IM
Grants
NIA NIH HHS · AG07922 · United States
NINDS NIH HHS · NS01289 · United States
NINDS NIH HHS · NS26630 · United States
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