Construction of a sequence contig across the CMT4A region

M. Rochelle, J. Stajich, S. Dew-Knight, R. Baxter, J. Gilbert, M. Ben Hamida, M. A. Pericak-Vance, F. Hentati, J. M. Vance

Research output: Contribution to journalArticlepeer-review


Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, autosomal recessive peripheral neuropathy located on chromosome 8q13-q21. We have previously constructed a YAC contig across the CMT4A region and narrowed the disease-flanking interval to several PACs/BACs. We report here the construction of a shotgun BAC sequence, which was subsequently used to fill gaps in the existing public human genome sequence, completing a sequence contig across the region. This has allowed identification of nine additional polymorphic microsatellite repeats to narrow the region further and at least five potential candidate genes.

Original languageEnglish (US)
Pages (from-to)33-34
Number of pages2
JournalActa Myologica
Issue numberMAY
StatePublished - Jan 1 2001


  • Charcot-Marie-Tooth disease

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Clinical Neurology


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