Article
Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit gene (Cav1.1) are not associated with thyrotoxic hypokalaemic periodic paralysis.
Clinical endocrinology - 1 Mar 2002
Dias da Silva Magnus R, Cerutti Janete M, Tengan Célia H, Furuzawa Gilberto K, Vieira Teresa C A, Gabbai Alberto A, Maciel Rui M B
Abstract excerpt
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 S4 voltage-sensing transmembrane segment of the alpha1...
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