Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Dec;42(12):5359-5363.
doi: 10.1007/s10072-021-05537-z. Epub 2021 Aug 11.

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

Andrea Rigamonti  1 , Vittorio Mantero  2 , Lorenzo Peverelli  3 , Serena Pagliarani  4 , Sabrina Lucchiari  4 , Giacomo Comi  5 , Sara Gibertini  6 , Andrea Salmaggi  2
Affiliations

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

Andrea Rigamonti et al. Neurol Sci. 2021 Dec.

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.

Keywords: Channellopathies; Mutation; Myopathy; Myotonia; SCN4A.

PubMed Disclaimer

References

    1. Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D et al (2010) The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 133:9–22 - DOI
    1. Stunnenberg BC, LoRusso S, Arnold WD, BarohnRJ CSC, Fontaine B et al (2020) Guidelines on clinical presentation and management of nondystrophic myotonias. Muscle Nerve 62(4):430–444 - DOI
    1. Fournier E, Viala K, Gervais H, Sternberg D, Arzel-Hézode M, Laforêt P et al (2006) Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 60(3):356–365 - DOI
    1. Valaperta R, Lombardi F, Cardani R, Fossati B, Brigonzi E, Merli I et al (2015) Development and validation of a new molecular diagnostic assay for detection of myotonic dystrophy type 2. Genet Test Mol Biomarkers 19(12):703–9 - DOI
    1. Galimberti V, Tironi R, Lerario A, Scali M, Del Bo R, Rodolico C et al (2020) Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy. Eur J Neurol 27:709–715 - DOI

Substances

LinkOut - more resources