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Article

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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2021

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

Abstract excerpt

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...

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PMID: 34378097
DOI: 10.1007/s10072-021-05537-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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