1. Sodium and chloride channelopathies with myositis: coincidence or connection?
- Author
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Matthews E, Miller JA, MacLeod MR, Ironside J, Ambler G, Labrum R, Sud R, Holton JL, and Hanna MG
- Subjects
- Adult, Aged, 80 and over, Channelopathies pathology, Female, Humans, Male, Muscle Weakness genetics, Muscle Weakness pathology, Muscles pathology, Myositis pathology, Channelopathies genetics, Chloride Channels genetics, Myositis genetics, Sodium Channels genetics
- Abstract
Introduction: A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown., Methods: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and additional myositis. Direct DNA sequencing was performed., Results: Pathogenic mutations were identified in each case. Biopsies demonstrated inflammatory infiltrates., Conclusions: Clinicians should consider muscle biopsy in channelopathy patients with severe myalgia and/or subacute weakness and accompanying elevated creatine kinase. Chance association of myositis and channelopathy is statistically unlikely. An alternative hypothesis suggests that inflammatory insults could contribute to myopathy in some patients., (Copyright © 2011 Wiley Periodicals, Inc.)
- Published
- 2011
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