Sodium and chloride channelopathies with myositis: coincidence or connection?
Sodium and chloride channelopathies with myositis: coincidence or connection?
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钠离子和氯离子通道病伴肌炎：巧合还是相关？
DOI：
10.1002/mus.22120
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发表时间：
2011
期刊：
影响因子：
3.4
通讯作者：
Hanna,MichaelG
中科院分区：
文献类型：
--
作者：
Matthews,Emma;Miller,JamesAL;MacLeod,MalcolmR;Ironside,James;Ambler,Gareth;Labrum,Robin;Sud,Richa;Holton,JaniceL;Hanna,MichaelG
前言：部分肌肉通道病患者发生近端肌病，但其发病的分子机制尚不清楚。方法：我们回顾了3例肌肉通道病并附加肌炎患者的临床和肌肉活检结果。进行DNA直接测序。结果：所有病例均检出致病基因突变。结论：对于有严重肌痛和/或亚急性无力并伴有肌酸激酶升高的经络病患者，临床医生应考虑肌肉活检。统计上不太可能将肌炎和经络病联系在一起。另一种假说表明，炎性侮辱可能会导致某些患者的肌病。肌肉神经，2011
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, 2011