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pmid: 32703462
Skeletal muscle channelopathies are rare genetic neuromuscular conditions that include the nondystrophic myotonias and periodic paralyses. They cause disabling muscle symptoms and can limit educational potential, work opportunities, socialization, and quality of life. Effective therapy is available, making it essential to recognize and treat this group of disorders. Here, the authors highlight important aspects regarding diagnosis and management using illustrative case reports.
Andersen Syndrome, Male, Adolescent, Paramyotonia congenita, Hypokalemic Periodic Paralysis, Neuromuscular Junction Diseases, Myotonia, Periodic paralysis., Mutation, Humans, Channelopathies, Muscle, Skeletal, Myotonia congenita, Myotonic Disorders
Andersen Syndrome, Male, Adolescent, Paramyotonia congenita, Hypokalemic Periodic Paralysis, Neuromuscular Junction Diseases, Myotonia, Periodic paralysis., Mutation, Humans, Channelopathies, Muscle, Skeletal, Myotonia congenita, Myotonic Disorders
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | 12 | |
popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network. | Top 10% | |
influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Average | |
impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Top 10% |