Affordable Access

deepdyve-link
Publisher Website

Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families.

Authors
  • Cibulcik, Frantisek1
  • Spalek, Peter1
  • Martinka, Ivan1
  • Zidkova, Jana2
  • Grofik, Milan3
  • Sivak, Stefan3
  • Kurca, Egon3
  • 1 Department of Neurology, Faculty of Medicine, Slovak Health University, University Hospital Bratislava, Slovak Republic.
  • 2 Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Czech Republic. , (Czechia)
  • 3 Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, University Hospital Martin, Slovak Republic.
Type
Published Article
Journal
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Publication Date
Dec 01, 2019
Volume
163
Issue
4
Pages
362–365
Identifiers
DOI: 10.5507/bp.2018.078
PMID: 30647473
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone. It requires consideration of genetics as more than 100 mutations in the CLCN1 gene and at least 20 mutations in the SCN4A gene are associated with the clinical features of the non-dystrophic myotonias. Only a few families with the described features but no genetic testing have been reported in Slovakia. This prompted us to investigate genetic mutations in the SCN4A gene in 3 Slovak families clinically diagnosed with paramyotonia. Genomic DNA of the family members was extracted from peripheral blood and amplified by polymerase chain reaction. SCN4A variants were screened by Sanger sequencing. Our results revealed 2 potential disease-causing mutations present in the probands and affected family members - mutations c.3938C > T (p.T1313M) in two families and mutation c.2111C>T (p. T704M) in one family. Our results may help to identify genetic determinants as well as clarify genotype-phenotype relationships in patients with paramyotonia in Slovakia.

Report this publication

Statistics

Seen <100 times