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.
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 channelopathypatients 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.
Authors: S Vicart; D Sternberg; E Fournier; F Ochsner; P Laforet; T Kuntzer; B Eymard; B Hainque; B Fontaine Journal: Neurology Date: 2004-12-14 Impact factor: 9.910
Authors: L J Ptáĉek; R Tawil; R C Griggs; G Meola; P McManis; R J Barohn; J R Mendell; C Harris; R Spitzer; F Santiago Journal: Neurology Date: 1994-08 Impact factor: 9.910
Authors: D Fialho; S Schorge; U Pucovska; N P Davies; R Labrum; A Haworth; E Stanley; R Sud; W Wakeling; M B Davis; D M Kullmann; M G Hanna Journal: Brain Date: 2007-10-11 Impact factor: 13.501
Authors: T M Miller; M R Dias da Silva; H A Miller; H Kwiecinski; J R Mendell; R Tawil; P McManis; R C Griggs; C Angelini; S Servidei; J Petajan; M C Dalakas; L P W Ranum; Y H Fu; L J Ptácek Journal: Neurology Date: 2004-11-09 Impact factor: 9.910
Authors: E Matthews; S V Tan; D Fialho; M G Sweeney; R Sud; A Haworth; E Stanley; G Cea; M B Davis; M G Hanna Journal: Neurology Date: 2008-01-01 Impact factor: 9.910