Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia

Muscle Nerve. 2015 Oct;52(4):688-9. doi: 10.1002/mus.24720. Epub 2015 Jul 27.

Authors

Francesca Boaretto¹, Mario Cacciavillani², Maria Luisa Mostacciuolo¹, Ambra Spalletta¹, Giuseppe Piscosquito³, Davide Pareyson³, Giovanni Vazza¹, Chiara Briani⁴

Affiliations

¹ Department of Biology, University of Padova, Padova, Italy.
² CEMES, Data Medica Group, EMG Laboratory, Padova, Italy.
³ Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences-IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
⁴ Department of Neurosciences, University of Padova, Padova, Italy.

PMID: 26059562
DOI: 10.1002/mus.24720

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Hereditary Sensory and Motor Neuropathy / genetics*
Hereditary Sensory and Motor Neuropathy / physiopathology
Humans
Male
Mutation / genetics*
Nerve Tissue Proteins / genetics*
Neural Conduction / genetics

Substances

HINT1 protein, human
Nerve Tissue Proteins