Background And Objectives: Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease). CM is more common in men and Becker myotonia may be 10 times more common than Thomsen myotonia.
View Article and Find Full Text PDFThe cytokinesis-block micronucleus (MN) assay on blood lymphocytes is one of the most important tests implemented in cytogenetics for the measurement of genotoxicity. For the purpose of biological dosing, it is crucial to know the spontaneous frequency of MN and its normal values in general population, especially in children, which are used for the population databases. In this study, MN levels were investigated in cytokinesis-blocked lymphocytes of 150 apparently healthy children aged 1 to 15.
View Article and Find Full Text PDFPurpose: To evaluate the ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome.
Methods: In total, 13 patients with suspected or clinically diagnosed Wolfram syndrome underwent ophthalmic and systemic examinations and genetic analyses for Wolfram syndrome between August and October 2018.
Results: The mean age of the subjects was 24.
The aim of this study was to determine the distribution of gene polymorphism in soccer players and sedentary individuals, and to investigate the relationship of this distribution with performance tests. A total of 100 soccer players and 101 sedentary individuals were enrolled in the study. Standing long jump and countermovement jump (with arm swing, without arm swing and repeated) scores were recorded, using a jump meter.
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