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Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.

PLoS genetics - 26 Aug 2010

Guernsey Duane L, Jiang Haiyan, Bedard Karen, Evans Susan C, Ferguson Meghan, Matsuoka Makoto, Macgillivray Christine, Nightingale Mathew, Perry Scott, Rideout Andrea L, Orr Andrew, Ludman Mark, Skidmore David L, Benstead Timothy, Samuels Mark E

Abstract excerpt

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...

Topics

Base Sequence
Canada
Charcot-Marie-Tooth Disease
Female
Humans
Male
Molecular Sequence Data
Mutagenesis, Insertional
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

RNA Splice Sites

RNA Splicing

Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 20865121
DOI: 10.1371/journal.pgen.1001081
PMCID: PMC2928813

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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