| Literature DB >> 17587224 |
Thomas Meyer1, Karin Jurkat-Rott, Angela Huebner, Frank Lehmann-Horn, Peter Linke, Frank Van Landeghem, Jörn S Dullinger, Simone Spuler.
Abstract
A family with hypokalemic periodic paralysis (HypoPP) and motor neuron degeneration is reported. In conjunction with HypoPP, the index patient developed progressive muscle atrophy. The calcium channel gene CACNA1S showed a mutation encoding p.R528H, which has been related previously to HypoPP. We propose that CACNA1S mutations may comprise a previously unrecognized genetic risk factor in a greater spectrum of motor unit disorders including amyotrophic lateral sclerosis.Entities:
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Year: 2008 PMID： 17587224 DOI： 10.1002/mus.20825
Source DB: PubMed Journal: Muscle Nerve ISSN： 0148-639X Impact factor: 3.217