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.
|Number of pages||2|
|State||Published - Jan 1 2001|
- Charcot-Marie-Tooth disease
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
- Clinical Neurology