Abstract / Description of output
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.
Original language | English |
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Pages (from-to) | 283-288 |
Number of pages | 6 |
Journal | Muscle & Nerve |
Volume | 44 |
Issue number | 2 |
DOIs | |
Publication status | Published - Aug 2011 |
Keywords / Materials (for Non-textual outputs)
- CHANNEL GENE
- ATTACKS
- myositis
- neuromuscular
- treatment
- HYPERKALEMIC PERIODIC PARALYSIS
- MYOTONIA-CONGENITA
- histopathology
- FAMILIES
- channelopathy
- PHENOTYPE
- PARAMYOTONIA-CONGENITA
- GENOTYPE
- MUTATIONS
- MYOPATHY