title: Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.
authors.affiliation: Department of Biology, University of Padova, Padova, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Boaretto
authors.affiliation: CEMES, Data Medica Group, EMG Laboratory, Padova, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Cacciavillani
authors.affiliation: Department of Biology, University of Padova, Padova, Italy.
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Mostacciuolo
authors.affiliation: Department of Biology, University of Padova, Padova, Italy.
authors.forename: Ambra
authors.initials: A
authors.lastname: Spalletta
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences-IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Piscosquito
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences-IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Pareyson
authors.affiliation: Department of Biology, University of Padova, Padova, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Vazza
authors.affiliation: Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Briani
mesh_terms: D000328:Adult; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics
chemical_list: C063306:HINT1 protein, human; D009419:Nerve Tissue Proteins