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...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
2 July 2018
|
| 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 
|
| Author Notes: | Jan Leo Rinnenthal, Carsten Dittmayer, Kerstin Irlbacher, Irene Wacker, Rasmus Schröder, Hans-Hilmar Goebel, Catherine Butori, Luisa Villa, Sabrina Sacconi, Werner Stenzel |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1692655310 | ||
| 003 | DE-627 | ||
| 005 | 20220818013636.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200316s2018 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.nmd.2018.06.010 |2 doi | |
| 035 | |a (DE-627)1692655310 | ||
| 035 | |a (DE-599)KXP1692655310 | ||
| 035 | |a (OCoLC)1341310432 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Rinnenthal, Jan Leo |e VerfasserIn |0 (DE-588)1206567171 |0 (DE-627)1692655264 |4 aut | |
| 245 | 1 | 0 | |a New variant of necklace fibres display peculiar lysosomal structures and mitophagy |c Jan Leo Rinnenthal, Carsten Dittmayer, Kerstin Irlbacher, Irene Wacker, Rasmus Schröder, Hans-Hilmar Goebel, Catherine Butori, Luisa Villa, Sabrina Sacconi, Werner Stenzel |
| 264 | 1 | |c 2 July 2018 | |
| 300 | |a 11 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 16.03.2020 | ||
| 520 | |a 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. | ||
| 650 | 4 | |a 3D electron microscopy | |
| 650 | 4 | |a Centronuclear myopathy | |
| 650 | 4 | |a Necklace fibres | |
| 700 | 1 | |a Wacker, Irene |e VerfasserIn |0 (DE-588)1070886238 |0 (DE-627)824718348 |0 (DE-576)167485237 |4 aut | |
| 700 | 1 | |a Schröder, Rasmus R. |e VerfasserIn |0 (DE-588)1070886483 |0 (DE-627)824718895 |0 (DE-576)165430702 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Neuromuscular disorders |d Amsterdam [u.a.] : Elsevier Science, 1991 |g 28(2018), 10, Seite 846-856 |h Online-Ressource |w (DE-627)320469093 |w (DE-600)2008287-3 |w (DE-576)094505535 |x 1873-2364 |7 nnas |a New variant of necklace fibres display peculiar lysosomal structures and mitophagy |
| 773 | 1 | 8 | |g volume:28 |g year:2018 |g number:10 |g pages:846-856 |g extent:11 |a New variant of necklace fibres display peculiar lysosomal structures and mitophagy |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.nmd.2018.06.010 |x Verlag |x Resolving-System |3 Volltext |
| 856 | 4 | 0 | |u http://www.sciencedirect.com/science/article/pii/S0960896617315390 |x Verlag |
| 951 | |a AR | ||
| 992 | |a 20200316 | ||
| 993 | |a Article | ||
| 994 | |a 2018 | ||
| 998 | |g 1070886483 |a Schröder, Rasmus R. |m 1070886483:Schröder, Rasmus R. |d 910000 |d 911700 |e 910000PS1070886483 |e 911700PS1070886483 |k 0/910000/ |k 1/910000/911700/ |p 5 | ||
| 998 | |g 1070886238 |a Wacker, Irene |m 1070886238:Wacker, Irene |d 700000 |d 724000 |d 160000 |d 160200 |e 700000PW1070886238 |e 724000PW1070886238 |e 160000PW1070886238 |e 160200PW1070886238 |k 0/700000/ |k 1/700000/724000/ |k 0/160000/ |k 1/160000/160200/ |p 4 | ||
| 999 | |a KXP-PPN1692655310 |e 3609023937 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"title":[{"title_sort":"New variant of necklace fibres display peculiar lysosomal structures and mitophagy","title":"New variant of necklace fibres display peculiar lysosomal structures and mitophagy"}],"language":["eng"],"origin":[{"dateIssuedKey":"2018","dateIssuedDisp":"2 July 2018"}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"relHost":[{"title":[{"subtitle":"official journal of the World Muscle Society","title":"Neuromuscular disorders","title_sort":"Neuromuscular disorders"}],"note":["Gesehen am 21.01.20","Ungezählte Beil.: Supplement"],"origin":[{"dateIssuedKey":"1991","publisherPlace":"Amsterdam [u.a.]","publisher":"Elsevier Science","dateIssuedDisp":"1991-"}],"pubHistory":["1.1991 -"],"language":["eng"],"physDesc":[{"extent":"Online-Ressource"}],"id":{"zdb":["2008287-3"],"issn":["1873-2364"],"eki":["320469093"]},"type":{"bibl":"periodical","media":"Online-Ressource"},"part":{"text":"28(2018), 10, Seite 846-856","extent":"11","issue":"10","volume":"28","pages":"846-856","year":"2018"},"recId":"320469093","disp":"New variant of necklace fibres display peculiar lysosomal structures and mitophagyNeuromuscular disorders"}],"name":{"displayForm":["Jan Leo Rinnenthal, Carsten Dittmayer, Kerstin Irlbacher, Irene Wacker, Rasmus Schröder, Hans-Hilmar Goebel, Catherine Butori, Luisa Villa, Sabrina Sacconi, Werner Stenzel"]},"person":[{"role":"aut","roleDisplay":"VerfasserIn","display":"Rinnenthal, Jan Leo","family":"Rinnenthal","given":"Jan Leo"},{"display":"Wacker, Irene","given":"Irene","family":"Wacker","role":"aut","roleDisplay":"VerfasserIn"},{"display":"Schröder, Rasmus R.","family":"Schröder","given":"Rasmus R.","role":"aut","roleDisplay":"VerfasserIn"}],"recId":"1692655310","note":["Gesehen am 16.03.2020"],"physDesc":[{"extent":"11 S."}],"id":{"eki":["1692655310"],"doi":["10.1016/j.nmd.2018.06.010"]}} | ||
| SRT | |a RINNENTHALNEWVARIANT2201 | ||