p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome

Andrea Rigamonti, Vittorio Mantero, Lorenzo Peverelli, Serena Pagliarani, Sabrina Lucchiari, Giacomo Comi, Sara Gibertini, Andrea Salmaggi

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: Mutations of the skeletal muscle sodium channel gene SCN4A are associated with several neuromuscular disorders including hyper/hypokaliemic periodic paralysis, paramyotonia congenita and sodium channel myotonia. These disorders are distinguished from dystrophic myotonias by the absence of progressive weakness and extramuscular systemic involvement. Methods: We present an Italian family with 2 subjects carrying a p.Asn1180Ile mutation in SCN4A gene showing a peculiar clinical picture characterized by the association of myopathic features and myotonia. Results: The clinical, electromyographic and histological findings of these patients are reported. The possible pathogenicity of the mutation was tested by three different software, all giving positive results. Discussion: 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.

Original languageEnglish
JournalNeurological Sciences
DOIs
Publication statusAccepted/In press - 2021

Keywords

  • Channellopathies
  • Mutation
  • Myopathy
  • Myotonia
  • SCN4A

ASJC Scopus subject areas

  • Dermatology
  • Clinical Neurology
  • Psychiatry and Mental health

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