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

Background: 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...

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Bibliographic Details
Main Authors: Frantisek Cibulcik, Peter Spalek, Ivan Martinka, Jana Zidkova, Milan Grofik, Stefan Sivak, Egon Kurca
Format: Article
Language:English
Published: Palacký University Olomouc, Faculty of Medicine and Dentistry 2019-12-01
Series:Biomedical Papers
Subjects:
Online Access:https://biomed.papers.upol.cz/artkey/bio-201904-0012_paramyotonia-congenita-in-a-slovak-population-genetic-and-pedigree-analysis-of-3-families.php