Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-tooth neuropathy to D19S586 to D19S432

Marcy C. Speer, Felicia Lennon Graham, Erin Bonner, Keva Collier, Jeffrey M. Stajich, Perry C. Gaskell, Margaret A. Pericak-Vance, Jeffery M. Vance

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

As part of an on-going genomic screen of unlinked Charcot-Marie-Tooth disease type 2 (CMT2) families, we identified 11 regions in the genome with lod scores ≥1.0. One of these regions was near the recently identified CMTDI1 locus on 19q. We show evidence of linkage of DUK 1118 to this region and our data reduce the minimum candidate interval for CMTDI1 to the 9-cM interval spanned by D19S586 and D19S432. We also demonstrate that five additional CMT2 families are unlinked to 19q markers, providing further evidence of CMT2 heterogeneity.

Original languageEnglish (US)
Pages (from-to)83-85
Number of pages3
JournalNeurogenetics
Volume4
Issue number2
DOIs
StatePublished - Oct 1 2002
Externally publishedYes

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Keywords

  • Charcot-Marie-Tooth disease type 2
  • Heterogeneity

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)

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