title: Peripheral neuropathies: whole genome sequencing identifies causal variants in CMT.
abstract: For the first time, medical sequencing has been successfully performed at the genome level to identify the causative gene in an individual with autosomal recessive Charcot-Marie-Tooth disease. The results of sequencing a proband with this condition highlight some of the opportunities and challenges of this seemingly ultimate approach to human genetics research and diagnostics.
authors.forename: Stephan
authors.initials: S
authors.lastname: Züchner
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics; D020641:Polymorphism, Single Nucleotide