Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report
Genetic diseases are rare. Coexistence of two genetic conditions is even rarer. Genetic confirmation of diagnosis is imperative for prediction of complications, accurate management, and genetic counseling.
Authors
- Kawmadi Gunawardena (ORCID: https://orcid.org/0000-0003-0205-2608)
- Praveenan Somasundaram
- Vajira H. W. Dissanayake (ORCID: https://orcid.org/0000-0002-3264-6856)
- Pyara Ratnayake (ORCID: https://orcid.org/0000-0001-6105-1651)
Institutions
- Lady Ridgeway Hospital for Children (LK)
- University of Colombo (LK)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2024-09-04
- DOI
- https://doi.org/10.1186/s13256-024-04723-9
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00