Lessons learned from a muscle study in nail-patella syndrome
Nail-patella (NPS) syndrome is an autosomal dominant disorder caused by mutations in the LMX1B gene and manifests with involvement of kidneys, nails, eyes as well as skeletal musculature. NPS shows some clinical similarities with Emery-Dreifuss muscular dystrophy. However, thus far human muscle tiss...
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| Hauptverfasser: | , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
28 July 2025
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| In: |
Orphanet journal of rare diseases
Year: 2025, Jahrgang: 20, Heft: 1, Pages: 1-10 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-025-03911-0 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s13023-025-03911-0 Verlag, kostenfrei, Volltext: https://link.springer.com/article/10.1186/s13023-025-03911-0 
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| Verfasserangaben: | Luisa Paul, Anne Schänzer, Christel Depienne, Andreas Hentschel, Nicolai Kohlschmidt, Ulrike Schara-Schmidt, Christopher Jannik Nelke, Andreas Roos and Heike Kölbel |
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| 520 | |a Nail-patella (NPS) syndrome is an autosomal dominant disorder caused by mutations in the LMX1B gene and manifests with involvement of kidneys, nails, eyes as well as skeletal musculature. NPS shows some clinical similarities with Emery-Dreifuss muscular dystrophy. However, thus far human muscle tissue has not been analysed in the context of NPS to precisely clarify the muscular involvement in this multi-systemic disease. | ||
| 650 | 4 | |a Elbow contractures | |
| 650 | 4 | |a Emery dreyfuss muscle dystrophy | |
| 650 | 4 | |a LMX1B | |
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| 650 | 4 | |a Nail-patella syndrome | |
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