What Is in the Myopathy Literature?

David Lacomis
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Abstract

Abstract: This update begins with the results of a positive trial of intravenous immunoglobulin in dermatomyositis and a study of molecular and morphologic patterns in inclusion body myositis that may explain treatment refractoriness. Single center reports of muscular sarcoidosis and immune-mediated necrotizing myopathy follow. There is also a report of caveolae-associated protein 4 antibodies as a potential biomarker and cause of immune rippling muscle disease. The remainder covers updates on muscular dystrophies as well as congenital and inherited metabolic myopathies with an emphasis on genetic testing. Rare dystrophies, including one involving ANXA11 mutations and a series on oculopharyngodistal myopathy, are discussed.

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什么是肌病文献?
摘要:本文从静脉注射免疫球蛋白治疗皮肌炎的阳性试验结果和包涵体肌炎的分子和形态模式研究开始,这些研究可能解释了治疗的难治性。单中心报告肌肉结节病和免疫介导的坏死性肌病。也有报道称,小窝相关蛋白4抗体是一种潜在的生物标志物和免疫波纹肌疾病的病因。其余部分包括肌肉萎缩症以及先天性和遗传性代谢性肌病的更新,重点是基因检测。罕见的营养不良,包括一个涉及ANXA11突变和一系列眼咽远端肌病,讨论。
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来源期刊
CiteScore
1.60
自引率
0.00%
发文量
64
期刊介绍: Journal of Clinical Neuromuscular Disease provides original articles of interest to physicians who treat patients with neuromuscular diseases, including disorders of the motor neuron, peripheral nerves, neuromuscular junction, muscle, and autonomic nervous system. Each issue highlights the most advanced and successful approaches to diagnosis, functional assessment, surgical intervention, pharmacologic treatment, rehabilitation, and more.
期刊最新文献
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