Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

@inproceedings{Guernsey2010MutationIT,
  title={Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease},
  author={Duane L. Guernsey and Haiyan Jiang and Karen Bedard and Susan C. Evans and Meghan Ferguson and Makoto Matsuoka and Christine Macgillivray and Mathew Nightingale and Scott Perry and Andrea L. Rideout and Andrew Orr and Mark David Ludman and David L. Skidmore and Timothy J Benstead and Mark E. Samuels},
  booktitle={PLoS genetics},
  year={2010}
}
Charcot-Marie-Tooth disease (CMT) represents a family of related sensorimotor neuropathies. We studied a large family from a rural eastern Canadian community, with multiple individuals suffering from a condition clinically most similar to autosomal recessive axonal CMT, or AR-CMT2. Homozygosity mapping with high-density SNP genotyping of six affected individuals from the family excluded 23 known genes for various subtypes of CMT and instead identified a single homozygous region on chromosome 9… CONTINUE READING