Mitochondrial cardiomyopathy with skeletal muscle myopathy caused by m.3260A > G mutation in MT-TL1 gene: a case report
Several factors cause the process of establishing the correct diagnosis of mitochondrial myopathies and cardiomyopathies to be challenging. The presented case aims to raise awareness of rare mitochondrial myopathies, to help clinicians speed up the diagnostic process.
Authors
- A. Kadisa (ORCID: https://orcid.org/0000-0003-2976-7291)
- Mihails Tarasovs (ORCID: https://orcid.org/0000-0002-9403-2163)
- Ieva Mičule (ORCID: https://orcid.org/0000-0003-2863-733X)
- Inna Inashkina
- Ritvars Vereskuns
Institutions
- Latvian Biomedical Research and Study Centre (LV)
- Riga East University Hospital (LV)
- Children's Clinical University Hospital (LV)
- Riga Stradiņš University (LV)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2025-11-06
- DOI
- https://doi.org/10.1186/s13256-025-05633-0
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00