Key result
Mutations in the Nav1.4 sodium channel cause skeletal muscle disorders such as myotonia and periodic paralysis, with symptoms ranging from mild to lethal depending on the specific mutation.
This review summarizes the role of Nav1.4 channel mutations in the pathophysiology of inherited skeletal muscle disorders such as myotonia and periodic paralysis.
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NaV1.4 mutations underlie five skeletal muscle disorders; leaves open questions on genotype-phenotype links and targeted therapies.
Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Na(v)1.4. The main symptoms of these disorders are myotonia or periodic paralysis caused by changes in skeletal muscle fiber excitability. Symptoms of these disorders vary from mild or latent disease to incapacitating or even death in severe cases. As new human sodium channel mutations corresponding to disease states become discovered, the importance of understanding the role of the sodium channel in skeletal muscle function and disease state grows.
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Dina Simkin (2011) conducted a review in Skeletal muscle Na+ channel disorders. Mutations in the Nav1.4 sodium channel cause skeletal muscle disorders such as myotonia and periodic paralysis, with symptoms ranging from mild to lethal depending on the specific mutation.
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