New variant of necklace fibres display peculiar lysosomal structures and mitophagy
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 c...
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| Main Authors: | , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2 July 2018
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| In: |
Neuromuscular disorders
Year: 2018, Volume: 28, Issue: 10, Pages: 846-856 |
| ISSN: | 1873-2364 |
| DOI: | 10.1016/j.nmd.2018.06.010 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1016/j.nmd.2018.06.010 Verlag: http://www.sciencedirect.com/science/article/pii/S0960896617315390 
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| Author Notes: | Jan Leo Rinnenthal, Carsten Dittmayer, Kerstin Irlbacher, Irene Wacker, Rasmus Schröder, Hans-Hilmar Goebel, Catherine Butori, Luisa Villa, Sabrina Sacconi, Werner Stenzel |
| Summary: | 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. |
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| Item Description: | Gesehen am 16.03.2020 |
| Physical Description: | Online Resource |
| ISSN: | 1873-2364 |
| DOI: | 10.1016/j.nmd.2018.06.010 |