title: Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.
authors.affiliation: Neurology Residency Program, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address: wladimirbvrpinto@gmail.com.
authors.forename: Wladimir Bocca Vieira de Rezende
authors.initials: WB
authors.lastname: Pinto
authors.affiliation: Neurology Residency Program, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
authors.forename: Acary Souza Bulle
authors.initials: AS
authors.lastname: Oliveira
authors.affiliation: Neurology Residency Program, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
authors.forename: Paulo Victor Sgobbi de
authors.initials: PV
authors.lastname: Souza
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005260:Female; D005420:Flavoproteins / Q000235:genetics*; D006801:Humans; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*
chemical_list: D005420:Flavoproteins; D010744:Phosphoric Monoester Hydrolases