Lessons learned from a muscle study in nail-patella syndrome

Lessons learned from a muscle study in nail-patella syndrome

Abstract Background 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 f...

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Bibliographic Details
Main Authors: Luisa Paul, Anne Schänzer, Christel Depienne, Andreas Hentschel, Nicolai Kohlschmidt, Ulrike Schara-Schmidt, Christopher Jannik Nelke, Andreas Roos, Heike Kölbel
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Nail-patella syndrome
Elbow contractures
Emery dreyfuss muscle dystrophy
LMX1B
Muscle proteomics
Online Access:https://doi.org/10.1186/s13023-025-03911-0
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https://doi.org/10.1186/s13023-025-03911-0

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