Multisystem clinicopathologic and genetic analysis of MELAS
MELAS is a rare mitochondrial syndrome characterized by clinical heterogeneity and genetic heteroplasmy. Abnormalities in mitochondrial metabolic function and impairments in enzyme activity are the pathogenic processes underlying MELAS. Mitochondrial vasculopathy and mitochondrial neuropathy may provide a partial explanation for the unique aetiology of stroke-like episodes.
Authors
- Biao Zhang (ORCID: https://orcid.org/0000-0002-9738-1123)
- Xiaolei Zhu (ORCID: https://orcid.org/0000-0003-4696-9696)
- Shuai Xu
- Leilei Chang (ORCID: https://orcid.org/0000-0002-1750-3638)
- Fengnan Niu (ORCID: https://orcid.org/0009-0001-3845-0002)
- Jialiu Jiang
Institutions
- Nanjing Drum Tower Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-12-24
- DOI
- https://doi.org/10.1186/s13023-024-03511-4
- Citations
- 4
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- National Natural Science Foundation of China
- Government of Jiangsu Province
- Natural Science Foundation of Jiangsu Province