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. © 2011 Wiley Periodicals, Inc.
|Number of pages||6|
|Journal||Muscle & Nerve|
|Publication status||Published - Aug 2011|
- CHANNEL GENE
- HYPERKALEMIC PERIODIC PARALYSIS