دورية أكاديمية
Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families
| العنوان: | Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families |
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| المؤلفون: | Frantisek Cibulcik, Peter Spalek, Ivan Martinka, Jana Zidkova, Milan Grofik, Stefan Sivak, Egon Kurca |
| المصدر: | Biomedical Papers, Vol 163, Iss 4, Pp 362-365 (2019) |
| بيانات النشر: | Palacký University Olomouc, Faculty of Medicine and Dentistry, 2019. |
| سنة النشر: | 2019 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | paramyotonia, periodic paralysis, genetics, Medicine |
| الوصف: | 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 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. Subjects and Methods: Genomic DNA of the family members was extracted from peripheral blood and amplified by polymerase chain reaction. SCN4A variants were screened by Sanger sequencing. Results: 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. Conclusion: Our results may help to identify genetic determinants as well as clarify genotype-phenotype relationships in patients with paramyotonia in Slovakia. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1213-8118 1804-7521 |
| Relation: | https://biomed.papers.upol.cz/artkey/bio-201904-0012_paramyotonia-congenita-in-a-slovak-population-genetic-and-pedigree-analysis-of-3-families.php; https://doaj.org/toc/1213-8118; https://doaj.org/toc/1804-7521 |
| DOI: | 10.5507/bp.2018.078 |
| URL الوصول: | https://doaj.org/article/86c3034d67154cdd93c1401cd8b76676 |
| رقم الأكسشن: | edsdoj.86c3034d67154cdd93c1401cd8b76676 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 12138118 18047521 |
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| DOI: | 10.5507/bp.2018.078 |