Two Cases of Periodic Paralysis Associated With MCM3AP Variants
Tatsuya Oishi,
Jennifer Pagano,
Cody Sellers
et al.
Abstract:Objectives:
Periodic paralysis is a rare genetic condition characterized by episodes of neuromuscular weakness, often provoked by electrolyte abnormalities, physiologic stress, physical exertion, and diet. In addition to mutations in genes coding for skeletal muscle ion channels, in 2019, Gustavasson et al discovered that the MCM3AP gene could be responsible for periodic paralysis. In this study, we present 2 individuals with clinical episodes of periodic paralysis who have variants in the MCM3AP g… Show more
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