Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations
Genotype/phenotype correlations in females heterozygous for DMD mutations are influenced by multiple mechanisms, of which better understanding will be crucial for future dystrophin gene replacement therapies. An earlier molecular identification is essential to lead to greater awareness of the potential cardiac complications, and hence the reinforcement of appropriate cardiac follow-up.
Authors
- Riccardo Bariani (ORCID: https://orcid.org/0000-0002-9120-8709)
- Elena Pegoraro (ORCID: https://orcid.org/0000-0002-7740-4156)
- Daniele Sabbatini (ORCID: https://orcid.org/0000-0002-5525-9576)
- Giuliana Capece (ORCID: https://orcid.org/0009-0003-0454-2464)
- Beatrice Merlo
- Pietro Riguzzi (ORCID: https://orcid.org/0009-0006-0241-2174)
- Domenico Gorgoglione (ORCID: https://orcid.org/0009-0004-1887-7270)
- Barbara Bauce (ORCID: https://orcid.org/0000-0001-7357-293X)
- Luca Bello (ORCID: https://orcid.org/0000-0002-3075-6525)
- Aurora Fusto (ORCID: https://orcid.org/0000-0002-8356-7947)
- Chiara Calore
- Marika Martini (ORCID: https://orcid.org/0009-0000-0522-8408)
- Gianni Sorarú (ORCID: https://orcid.org/0000-0001-9691-6328)
- Vittoria Zangaro
- Sara Vianello
- Anna Mutterle
Institutions
- University of Padua (IT)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1007/s00415-025-12987-4
- Citations
- 5
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 4.03
Funders
- Fondazione Cassa di Risparmio di Padova e Rovigo
- Università degli Studi di Padova