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Skeletal Muscle Channelopathies.
- Source :
-
Neurologic clinics [Neurol Clin] 2020 Aug; Vol. 38 (3), pp. 481-491. - Publication Year :
- 2020
-
Abstract
- 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.<br />Competing Interests: Disclosures Part of this work was undertaken at University College London Hospitals/University College London, which received a proportion of funding from the Department of Health’s National Institute for Health Research Biomedical Research Centres funding scheme. M.G. Hanna receives research funds from the Medical Research Council and the UCLH Biomedical Research Centre. E. Matthews receives research funds from Wellcome.<br /> (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Subjects :
- Adolescent
Andersen Syndrome physiopathology
Channelopathies physiopathology
Humans
Hypokalemic Periodic Paralysis physiopathology
Male
Muscle, Skeletal physiopathology
Mutation genetics
Myotonic Disorders diagnosis
Myotonic Disorders genetics
Myotonic Disorders physiopathology
Neuromuscular Junction Diseases diagnosis
Neuromuscular Junction Diseases genetics
Neuromuscular Junction Diseases physiopathology
Andersen Syndrome diagnosis
Andersen Syndrome genetics
Channelopathies diagnosis
Channelopathies genetics
Hypokalemic Periodic Paralysis diagnosis
Hypokalemic Periodic Paralysis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1557-9875
- Volume :
- 38
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Neurologic clinics
- Publication Type :
- Academic Journal
- Accession number :
- 32703462
- Full Text :
- https://doi.org/10.1016/j.ncl.2020.04.003