Schänzer Anne, Dittmayer Carsten, Porubsky Stefan, Weis Joachim, Goebel Hans-Hilmar, Stenzel Werner
Institut für Neuropathologie, Justus-Liebig-Universität Gießen, Arndstr. 16, 35392, Gießen, Deutschland.
Institut für Neuropathologie, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt-Universität zu Berlin, 10117, Berlin, Deutschland.
Pathologie (Heidelb). 2023 Mar;44(2):104-112. doi: 10.1007/s00292-022-01163-4. Epub 2022 Dec 2.
Muscle diseases include hereditary and acquired diseases with clinical manifestation in both childhood and adulthood. The different muscle diseases may have ultrastructural alterations that help us further understand the pathology of the disease. Specific changes in sarcomere structure help to classify a congenital myopathy. The detection of cellular aggregates supports the classification of myositis. Pathologically altered mitochondria, on the other hand, can occur both in genetic mitochondriopathies but also secondarily in acquired muscle diseases like myositis. Ultrastructural analysis of the myocardium is also helpful in the diagnosis of hereditary cardiomyopathies in childhood. This review article highlights the ultrastructural features of different muscle diseases and pathognomonic findings in specific disease groups.
肌肉疾病包括遗传性和后天性疾病,在儿童期和成年期均有临床表现。不同的肌肉疾病可能存在超微结构改变,这有助于我们进一步了解疾病的病理学。肌节结构的特定变化有助于先天性肌病的分类。细胞聚集体的检测有助于肌炎的分类。另一方面,病理改变的线粒体既可见于遗传性线粒体病,也可见于后天性肌肉疾病如肌炎的继发性改变。心肌的超微结构分析对儿童遗传性心肌病的诊断也有帮助。这篇综述文章重点介绍了不同肌肉疾病的超微结构特征以及特定疾病组的特征性表现。