Matthews, E; Miller, JAL; Macleod, MR; Ironside, J; Ambler, G; Labrum, R; ... Hanna, MG; + view all Matthews, E; Miller, JAL; Macleod, MR; Ironside, J; Ambler, G; Labrum, R; Sud, R; Holton, JL; Hanna, MG; - view fewer (2011) SODIUM AND CHLORIDE CHANNELOPATHIES WITH MYOSITIS: COINCIDENCE OR CONNECTION? MUSCLE NERVE , 44 (2) 283 - 288. 10.1002/mus.22120.
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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. Muscle Nerve 44: 283-288, 2011
|Title:||SODIUM AND CHLORIDE CHANNELOPATHIES WITH MYOSITIS: COINCIDENCE OR CONNECTION?|
|Keywords:||channelopathy, histopathology, myositis, neuromuscular, treatment, HYPERKALEMIC PERIODIC PARALYSIS, PARAMYOTONIA-CONGENITA, MYOTONIA-CONGENITA, CHANNEL GENE, MUTATIONS, PHENOTYPE, GENOTYPE, MYOPATHY, FAMILIES, ATTACKS|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience|
UCL > School of BEAMS > Faculty of Maths and Physical Sciences > Statistical Science
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