Case Report: Late Onset Myofibrillary Myopathy in a Patient with DES and LDB3 Mutations (P3-11.030)
To report a rare case of a 73-year-old presenting with distal extremity weakness and diagnosed with myofibrillar myopathy via the identification of two disease causing mutations in the genes – DES and ZASP/LDB3
Authors
- Umair Ahmed (ORCID: https://orcid.org/0000-0003-1991-1069)
- Mehwish Khan (ORCID: https://orcid.org/0000-0002-0051-9553)
- Edward H. Yu (ORCID: https://orcid.org/0009-0008-8705-6395)
- Arnaud Batchou
Institutions
- Northwell Health (US)
- Feinstein Institute for Medical Research (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000212419
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00