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Article

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

Muscle & nerve - 1 Jan 2008

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

Abstract excerpt

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...

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Identifiers

PMID: 17587224
DOI: 10.1002/mus.20825

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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