Sodium and chloride channelopathies with myositis: Coincidence or connection?

Emma Matthews, James A. L. Miller, Malcolm R. Macleod, James Ironside, Gareth Ambler, Robin Labrum, Richa Sud, Janice L. Holton, Michael G. Hanna*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)283-288
Number of pages6
JournalMuscle & Nerve
Volume44
Issue number2
DOIs
Publication statusPublished - 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

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