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• W2897601794 endingPage "965" @default.
• W2897601794 startingPage "954" @default.
• W2897601794 abstract "Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic and phenotypic variability. These disorders cause lifetime disability and impact quality of life. Despite advances in understanding of the molecular pathology of these disorders, the diverse phenotypic manifestations remain a challenge in diagnosis, therapeutic, genetic counseling, and research planning. Electrodiagnostic testing is useful in directing the diagnosis, but has several limitations: patient discomfort, time consuming, and significant overlap of findings in muscle channelopathies. Although genetic testing is the gold standard in making a definitive diagnosis, a mutation might not be identified in many patients with a well-supported clinical diagnosis of periodic paralysis. In the recent past, there have been landmark clinical trials in non-dystrophic myotonia and periodic paralysis which are encouraging as they demonstrate the ability of robust clinical research consortia to conduct well-controlled trials of rare diseases." @default.
• W2897601794 created "2018-10-26" @default.
• W2897601794 creator A5038421269 @default.
• W2897601794 creator A5043495363 @default.
• W2897601794 date "2018-10-01" @default.
• W2897601794 modified "2023-09-25" @default.
• W2897601794 title "Skeletal Muscle Channelopathies" @default.
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