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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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Bibliographic Details
Main Authors: Paul, Luisa (Author) , Schänzer, Anne (Author) , Depienne, Christel (Author) , Hentschel, Andreas (Author) , Kohlschmidt, Nicolai (Author) , Schara-Schmidt, Ulrike (Author) , Nelke, Christopher Jannik (Author) , Roos, Andreas (Author) , Kölbel, Heike (Author)
Format: Article (Journal)
Language:English
Published: 28 July 2025
In: Orphanet journal of rare diseases
Year: 2025, Volume: 20, Issue: 1, Pages: 1-10
ISSN:1750-1172
DOI:10.1186/s13023-025-03911-0
Online Access: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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Author Notes: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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Summary: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.
Item Description:Gesehen am 11.12.2025
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-025-03911-0

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