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Rationale and objective of the study: In the study of coordination of motor abilities, motor performance tests without examining the internal structure of the movement were used. The objective of this study was to examine the kinesthetic differentiation capacity level and to stimulate muscles during a test among basketball players in intermediate and specialist stages of training. Material and methods:...
Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33. Phenotype of the patients is characterized by severe sensory loss affecting all sensory modalities. We report a novel homozygous Lys179fsX182 (HSN2); Lys965fsX968 (WNK1/HSN2) mutation causing an early childhood onset hereditary sensory and autonomic...
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