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Tubular aggregate myopathy causing progressive fatiguable weakness
Practical Neurology Pub Date : 2024-04-01 , DOI: 10.1136/pn-2023-003838
Qihua Fan 1 , Kelly Gwathmey 2 , Xinli Du 2 , Arjun Seth 3 , Andrea Corse 4
Affiliation  

Tubular aggregate myopathies comprise a rare group of disorders with characteristic pathological findings and heterogeneous phenotypes, including myasthenic syndrome. We describe a patient with tubular aggregate myopathy who presented with fatiguable weakness improving with pyridostigmine, respiratory involvement and possible cardiac manifestations. We highlight the utility of muscle biopsy in atypical myasthenic syndrome. Data sharing not applicable as no datasets generated and/or analysed for this study.

中文翻译:

管状聚集性肌病导致进行性疲劳无力

管状聚集性肌病包括一组罕见的疾病,具有特征性病理结果和异质表型,包括肌无力综合征。我们描述了一名患有管状聚集性肌病的患者,该患者出现疲劳无力,经吡斯的明改善后,出现呼吸系统受累和可能的心脏症状。我们强调肌肉活检在非典型肌无力综合征中的效用。数据共享不适用,因为本研究没有生成和/或分析数据集。
更新日期:2024-03-19
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