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p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
- Source :
- Neurological Sciences; Dec2021, Vol. 42 Issue 12, p5359-5363, 5p, 2 Color Photographs, 1 Diagram
- Publication Year :
- 2021
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 15901874
- Volume :
- 42
- Issue :
- 12
- Database :
- Complementary Index
- Journal :
- Neurological Sciences
- Publication Type :
- Academic Journal
- Accession number :
- 153954786
- Full Text :
- https://doi.org/10.1007/s10072-021-05537-z