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© 1994 Oxford University Press

OTHER

A calcium channel mutation causing hypokalemic periodic paralysis

Karln Jurkat-Rott, Frank Lehmann-Horn*, Alexis Elbaz1, Roland Heine, Ronald G. Gregg2, Kirk Hogan2, Patricia A. Powers2, Pascale Laple1, José E. Vale-Santos1, Jean Weissenbach3 and Bertrand Fontaine1

1INSERM U134, Fédération de Neurotogie, Hôpital de la Salpêtriere 75013 Paris, France 2Department of Anesthesiology and the Waisman Center on Mental Retardation and Human Development, University of Wisconsin Madison, Wl 53705, USA 3Généthon, 91000 Evry and Pasteur Institute 75015 Paris, France

*To whom correspondence should be addressed

Received May 31, 1994; Accepted June 13, 1994

The only calcium channel mutation reported to date is a deletion in the gene for the DHP-receptor {alpha}1-subunit resulting in neonatal death in muscular dysgenesis mice (1). In humans, this gene maps to chromosome 1q31–32. An autosomal dominant muscle disease, hypokalemic periodic paralysis (HypoPP), has been mapped to the same region (2). Sequencing of cDNA of two patients revealed a G-to-A base exchange of nucleotide 1583 predicting a substitution of histldine for arglnine528. This affects the outermost positive charge in the transmembrane segment IIS4 that Is considered to participate in voltage sensing. By restriction fragment analysis, the mutation was detected in the affected members of 9 out of 25 HypoPP families. The results indicate that the DHP-receptor a1-subunit mutation causes HypoPP. An altered excitation-contraction coupling may explain the occurrence of muscle weakness.


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