p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
Rigamonti AndreaVittorio ManteroLorenzo PeverelliSerena PagliaraniSabrina LucchiariGiacomo ComiSara GibertiniAndrea SalmaggiPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)
This is the first report of a dominant, heterozygous mutation in SCN4A causing a complex phenotype of non-congenital myopathy and myotonic syndrome. We suggest that, in patients with myotonia and myopathy not related to dystrophic myotonias, the sequence analysis of SCN4A gene should be performed.