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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: Paul, Luisa (VerfasserIn) , Schänzer, Anne (VerfasserIn) , Depienne, Christel (VerfasserIn) , Hentschel, Andreas (VerfasserIn) , Kohlschmidt, Nicolai (VerfasserIn) , Schara-Schmidt, Ulrike (VerfasserIn) , Nelke, Christopher Jannik (VerfasserIn) , Roos, Andreas (VerfasserIn) , Kölbel, Heike (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 28 July 2025
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
Volltext
Verfasserangaben:Luisa Paul, Anne Schänzer, Christel Depienne, Andreas Hentschel, Nicolai Kohlschmidt, Ulrike Schara-Schmidt, Christopher Jannik Nelke, Andreas Roos and Heike Kölbel
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 11.12.2025
Beschreibung:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-025-03911-0

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