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Myotonia is the clinical sign characterized by delay in the muscle relaxation after voluntarycontraction and is related to the dystrophic or no dystrophic myopathies, and can be acquiredorigin (autoimmune neuromyotonia) or inherited. The main cause of non-dystrophichereditary myotonia are related with mutations in CLCN1 gene, encoding the major skeletalmuscle ion channel selective for chloride ion and, resulting in an disease that is known inhuman medicine as congenital myotonia. Patients with this disease, present myotonia after thevoluntary or stimulated movement, that decreases as the exercise is maintained, occurring the so-called "warm-up" phenomenon. These patients do not present dystrophic signs and in these cases the clinical diagnosis should be confirmed by EMG, establishing the diagnosis of myotonia due to the presence of myotonic discharges. Mutations in the CLCN1 gene, causing myotonia, have been previously identified affecting many animal species however, in swine specie, no mutation in this gene have been yet described. The aim of this study is to perform the clinicaland molecular characterization of a form of hereditary myotonia in pigs. Animals with clinical signs consistent with hereditary myotonia will be evaluated: clinical, electromyographic, histological and molecular aspects. Molecular tests will be optimized allowing the current proposal and may be used as a diagnostic tool of this disease and also for the guidance of matings in this species. Furthermore, CLCN1 gene mutation(s) identification and characterization of a chloride channel channelopathy is this animal specie can contribute to comparative studies of this disease among various species, including humans. (AU)

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(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
ARAUJO, C. E. T.; OLIVEIRA, C. M. C.; BARBOSA, J. D.; OLIVEIRA-FILHO, J. P.; RESENDE, L. A. L.; BADIAL, P. R.; ARAUJO-JUNIOR, J. P.; MCCUE, M. E.; BORGES, A. S.. A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs. SCIENTIFIC REPORTS, v. 9, . (16/06281-0)

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