Article
Altered calcium currents in human hypokalemic periodic paralysis myotubes expressing mutant L-type calcium channels.
Society of General Physiologists series - 1 Jan 1995
Lehmann-Horn F, Sipos I, Jurkat-Rott K, Heine R, Brinkmeier H, Fontaine B, Kovacs L, Melzer W
Abstract excerpt
In a genome-wide search, linkage of hypokalemic periodic paralysis (HypoPP), a muscle disease with autosomal dominant inheritance, to chromosome 1q31-32 and cosegregation with the gene encoding the L-type calcium channel/DHP receptor alpha 1 subunit has been reported (Fontaine et al., 1994). Here we show the extended haplotypes of a large HypoPP family who made the detection of the gene product possible....
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