Key result
Gating pore current has been identified as a key disease-causing mechanism in muscle channelopathies, allowing for new correlations to be drawn between disease genotype and phenotype.
Population
Patients with skeletal muscle channelopathies, including periodic paralyses, nondystrophic myotonias…
Design
Review
Authors
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May refine genotype-phenotype correlations in muscle channelopathies; leaves open clinical translation of gating pore insights.
This review highlights advances in the genetic and molecular understanding of skeletal muscle channelopathies, particularly the role of gating pore currents, and notes emerging treatments like mexiletine and flecainide.
Platt et al. (2009) conducted a review in Skeletal muscle channelopathies. Gating pore current has been identified as a key disease-causing mechanism in muscle channelopathies, allowing for new correlations to be drawn between disease genotype and phenotype.
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