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Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation

✍ Scribed by Thomas Meyer; Karin Jurkat-Rott; Angela Huebner; Frank Lehmann-Horn; Peter Linke; Frank Van Landeghem; Jörn S. Dullinger; Simone Spuler

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
304 KB
Volume
37
Category
Article
ISSN
0148-639X

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✦ Synopsis

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. Muscle Nerve, 2007

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