Beschreibung:
<jats:title>Abstract</jats:title><jats:p>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 <jats:italic>CACNA1S</jats:italic> showed a mutation encoding p.R528H, which has been related previously to HypoPP. We propose that <jats:italic>CACNA1S</jats:italic> mutations may comprise a previously unrecognized genetic risk factor in a greater spectrum of motor unit disorders including amyotrophic lateral sclerosis. Muscle Nerve, 2007</jats:p>