Channelpedia

PubMed 17587224


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav1.1



Title: Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.

Authors: Thomas Meyer, Karin Jurkat-Rott, Angela Huebner, Frank Lehmann-Horn, Peter Linke, Frank Van Landeghem, Jörn S Dullinger, Simone Spuler

Journal, date & volume: Muscle Nerve, 2008 Jan , 37, 120-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/17587224


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.