Department of Pathology, Charité - Universitätsmedizin Berlin, Chariteplatz 1, 10117 Berlin, Germany.
Department of Neuropathology, Charité - Universitätsmedizin Berlin, Chariteplatz 1, 10117 Berlin, Germany.
Neuromuscul Disord. 2018 Oct;28(10):846-856. doi: 10.1016/j.nmd.2018.06.010. Epub 2018 Jul 2.
Here, we describe a new variant of necklace fibres with specific myopathological features that have not been described thus far. They were observed in two patients, from two independent families with identical DNM2 (dynamin 2) mutation (c.1106 G > A (p.Arg369Gln)), displaying mildly heterogeneous clinical phenotypes. The variant is characterized by lysosomal inclusions, arranged in a necklace pattern, containing homogenous material, devoid of myonuclei. The so-called necklace region has a certain characteristic distance to the sarcolemma. Electron microscopy, including three dimensional reconstructions of serial section images highlights their ultrastructural properties and relation to neighbouring organelles. This new pattern is compared to the previously reported patterns in muscle biopsies containing necklace fibres associated with MTM1- and DNM2-mutations.
在这里，我们描述了一种具有特定肌病特征的项链纤维新变体，迄今为止尚未有报道。在两个具有相同 DNM2（dynamin 2）突变（c.1106 G > A (p.Arg369Gln)）的独立家族的两个患者中观察到了这种变体，他们表现出轻度异质性的临床表型。该变体的特征是包含均匀物质且不含肌核的溶酶体包涵体呈项链状排列。所谓的项链区域与肌膜之间具有一定的特征距离。电子显微镜，包括对连续切片图像的三维重建，突出了它们的超微结构特性及其与邻近细胞器的关系。这种新的模式与以前报道的包含与 MTM1-和 DNM2-突变相关的项链纤维的肌肉活检中的报告模式进行了比较。
