Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.
نویسندگان
چکیده
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.
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ورودعنوان ژورنال:
- Muscle & nerve
دوره 37 1 شماره
صفحات -
تاریخ انتشار 2008