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Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel α1 subunit gene (Ca~v~1·1) are not associated with thyrotoxic hypokalaemic periodic paralysis by Magnus R. Dias da Silva; Janete M. Cerutti; Célia H. Tengan; Gilberto K. Furuzawa; Teresa C. A. Vieira; Alberto A. Gabbai; Rui M. B. Maciel is a Medicine article available to read on EtoBox.

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## Summary objective To investigate whether patients with thyrotoxic hypokalaemic periodic paralysis (THPP) have the same molecular defect in the calcium channel gene described in familial hypokalaemic periodic paralysis (FHPP), as the symptoms of both diseases are comparable, we analysed, in patients with THPP, the presence of mutations R528H, R1239H and R1239G on the S~4~ voltage‐sensing transmembrane segment of the α1 subunit of the calcium channel gene (Cav1·1). design and patients Genomic DNA was extracted from peripheral blood from 14 patients with THPP, 13 sporadic cases and one with a family history. An FHPP family was selected as a positive control. The exons bearing the described mutations were amplified by PCR, screened by single‐strand conformation polymorphism (SSCP), and further sequenced. measurements THPP was diagnosed both clinically and through laboratory tests, all patients having elevated levels of thyroid hormones (T4, T3 or free T4), suppressed TSH and plasma potassium below 3·5 mmol/l. results No evidence of the described mutations was found in patients with THPP. Furthermore, we did not detect any mutations in any of the four full S~4~ voltage‐sensing transm

Who reads Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel α1 subunit gene (Ca~v~1·1) are not associated with thyrotoxic hypokalaemic periodic paralysis?

Author

Magnus R. Dias da Silva; Janete M. Cerutti; Célia H. Tengan; Gilberto K. Furuzawa; Teresa C. A. Vieira; Alberto A. Gabbai; Rui M. B. Maciel

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley; Research Square (ISSN 0300-0664)

Published

2002

Language

EN

Field

Medicine (Health Sciences)