Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age
This observational study provides long-term data on disease progression in CMyo. Adult CMyo patients generally presented mild motor disability at follow-up. Nevertheless, a subset of patients experienced loss of gait and severe respiratory failure. CMyo should be considered in the differential diagnosis of adult-onset myopathies due to the rare but possible late-onset forms.
Authors
- Edoardo Malfatti (ORCID: https://orcid.org/0000-0001-7871-8600)
- Gianmarco Severa
- Norma B. Romero (ORCID: https://orcid.org/0000-0001-7714-0069)
- Pascal Laforêt (ORCID: https://orcid.org/0000-0002-4489-4718)
- B. Eymard (ORCID: https://orcid.org/0009-0008-9626-4516)
- M. Bisciglia (ORCID: https://orcid.org/0000-0001-6955-7462)
- Anthony Béhin (ORCID: https://orcid.org/0000-0001-7179-5152)
- John Rendu (ORCID: https://orcid.org/0000-0002-0377-0807)
- Ana Ferreiro (ORCID: https://orcid.org/0000-0003-2806-5386)
- Michel Fardeau
- Tanya Stojkovic
Institutions
- Centre National de la Recherche Scientifique (FR)
- Université Libre de Bruxelles (BE)
- Inserm (FR)
- Université de Versailles Saint-Quentin-en-Yvelines (FR)
- Université Paris-Est Créteil (FR)
- Université Paris Cité (FR)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Erasmus Hospital (BE)
- Sorbonne Université (FR)
- Sorbonne Paris Cité (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institut de Myologie (FR)
- Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologie appliquées (FR)
- Hôpitaux Universitaires Henri-Mondor (FR)
- Unit of Functional and Adaptive Biology (FR)
- Grenoble Institute of Neurosciences (FR)
- Institut Mondor de Recherche Biomédicale (FR)
- Université Grenoble Alpes (FR)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2025-03-30
- DOI
- https://doi.org/10.1111/ene.70109
- Citations
- 2
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 2.78