Natural History and Phenotypic Spectrum of Myofibrillar Myopathies and Myopathies Associated With MFM-Related Genes
MFM and myopathies associated with MFM-related genes are clinically heterogeneous, with desminopathy showing earlier cardiac manifestations and gait aid requirement and more frequent cardiopulmonary involvement. Given the phenotypic variability, genetic diagnosis is crucial for patient management and prognosis.
Authors
- P. James B. Dyck (ORCID: https://orcid.org/0000-0003-0212-8254)
- Duygu Selcen (ORCID: https://orcid.org/0009-0009-1765-1866)
- Teerin Liewluck (ORCID: https://orcid.org/0000-0002-0212-5697)
- Thapat Wannarong (ORCID: https://orcid.org/0000-0003-1839-1903)
- Margherita Milone (ORCID: https://orcid.org/0000-0002-4338-9007)
Institutions
- Mayo Clinic in Arizona (US)
- University of Nebraska Medical Center (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-11-03
- DOI
- https://doi.org/10.1212/wnl.0000000000214255
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00