<i>ACTA1</i> ‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods
We report a milder, late-onset, slowly progressive scapuloperoneal myopathy phenotype with cores and rods and cardiac alpha-actin overexpression, thus expanding the spectrum of actinopathies.
Authors
- Jean‐Pascal Lefaucheur (ORCID: https://orcid.org/0000-0002-0294-8239)
- Gianmarco Severa
- A Dobrescu
- Marion Onnée
- Aysylu F. Murtazina (ORCID: https://orcid.org/0000-0001-7023-7378)
- Andoni Urtizberea
- S. J. Nikitin
- Corinne Metay
- Alexandru Caramizaru
- Edoardo Malfatti
- Robert‐Yves Carlier
Institutions
- Inserm (FR)
- Université de Versailles Saint-Quentin-en-Yvelines (FR)
- Université Paris-Est Créteil (FR)
- Université Paris-Saclay (FR)
- University of Medicine and Pharmacy of Craiova (RO)
- Centre Hospitalier Universitaire Henri-Mondor (FR)
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institut de Myologie (FR)
- Research Centre for Medical Genetics (RU)
- Hôpitaux Universitaires Henri-Mondor (FR)
- Hôpital Raymond-Poincaré (FR)
- Laboratoire de Génétique Cellulaire (FR)
- Institut Mondor de Recherche Biomédicale (FR)
- Centre de Recherche en Myologie
Publication Details
- Journal
- Neuropathology and Applied Neurobiology
- Published
- 2026-03-13
- DOI
- https://doi.org/10.1111/nan.70067
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00