A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating Charcot-Marie-Tooth disease.
L CitrignoS ZoccolellaP LastellaIsabella Laura SimoneM MugliaPublished in: European journal of neurology (2021)
This is the first report that describes such a genetic mutation in a population of non-Romani origin.