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Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation

Item Type:Article
Title:Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation
Creators Name:Meyer, T. and Jurkat-Rott, K. and Huebner, A. and Lehmann-Horn, F. and Linke, P. and Van Landeghem, F. and Dullinger, J.S. and Spuler, S.
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.
Keywords:Amyotrophic Lateral Sclerosis, Cacna1s, Calcium Channel, Hypokalemic Periodic Paralysis, Progressive Muscle Atrophy
Source:Muscle & nerv
ISSN:0148-639X
Publisher:Wiley-Blackwell (U.S.A.)
Volume:37
Number:1
Page Range:120-124
Date:January 2008
Additional Information:The definitive version is available at www3.interscience.wiley.com
Official Publication:https://doi.org/10.1002/mus.20825
PubMed:View item in PubMed

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