Medical Research Council Centre for Neuromuscular Disease, UCL, Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Muscle Nerve. 2011 Aug;44(2):283-8. doi: 10.1002/mus.22120. Epub 2011 Jun 22.
A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown.
We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and additional myositis. Direct DNA sequencing was performed.
Pathogenic mutations were identified in each case. Biopsies demonstrated inflammatory infiltrates.
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.
一些患有肌肉通道病的患者会出现近端肌病，但致病的分子机制尚不清楚。
我们回顾性分析了 3 例伴有肌炎的通道病患者的所有临床和肌肉活检结果。进行了直接 DNA 测序。
每种情况下均发现了致病性突变。活检显示有炎症浸润。
当通道病患者出现严重肌痛和/或亚急性无力且伴有肌酸激酶升高时，临床医生应考虑进行肌肉活检。肌炎和通道病的偶然关联在统计学上不太可能。另一种假说表明，炎症损伤可能导致某些患者的肌病。
