ArticleNeurogenetics2003
Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region.
Article in Neurogenetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Journal of neurology · 2017Pooled it
- A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.Journal of human genetics · 2006Article
- Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.Neuromolecular medicine · 2006Review
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Authors and funding
7 authors.
Funding
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Abstract
Charcot-Marie-Tooth (CMT) neuropathy is one of the most common hereditary disorders of the human peripheral nervous system. The CMT syndrome includes weakness and atrophy of distal muscles, high arched feet (pes cavus), depressed or absent deep tendon reflexes, and mild sensory loss. Dominant intermediate CMT (DI-CMT) neuropathy is a form of CMT with intermediate median motor nerve conduction velocities. We previously localized the DI-CMT locus to a 16.8-cM region on chromosome 19p12-p13.2. Extended haplotype analysis and clinical assessment of additional family members and a report of a second family linked to this locus has enabled us to narrow the candidate region to a 6-cM interval flanked by D19S558 and D19S432. Selection of positional candidate genes for screening was performed on the basis of neural expression and microarray analysis of Schwann cell differentiation in vivo. Seven candidate genes have been investigated. These include six genes localized in the original linkage interval and one in the newly refined region. They are excluded as a cause for DI-CMT neuropathy.
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