Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy
This paper discusses the cases of siblings that were born healthy, then diagnosed in their neonatal periods with cardiomyopathy and/or severe metabolic acidosis, which ran progressive courses and contributed to death in infancy. Molecular testing of the children confirmed the presence of an m.3303C>T point mutation in the mitochondrial DNA in the <i>MT-TL1</i> gene, which was also present in their oligosymptomatic mother and their mother's sister, an asymptomatic carrier.
Authors
- Iwona Maroszyńska (ORCID: https://orcid.org/0000-0003-4061-4843)
- Katarzyna Fortecka-Piestrzeniewicz
- Ewa Starostecka (ORCID: https://orcid.org/0000-0003-3151-4867)
- Łukasz Kępczyński (ORCID: https://orcid.org/0000-0002-2882-5448)
- Dorota Piekutowska‐Abramczuk (ORCID: https://orcid.org/0000-0002-9786-3704)
- Elżbieta Ciara (ORCID: https://orcid.org/0000-0002-1065-7968)
- Dorota Wesół‐Kucharska (ORCID: https://orcid.org/0000-0003-0274-1278)
- Dariusz Rokicki (ORCID: https://orcid.org/0000-0002-9736-2838)
- Olga Fałek
Institutions
- Children's Memorial Health Institute (PL)
- Polish Mother’s Memorial Hospital Research Institute (PL)
Publication Details
- Journal
- Genes
- Published
- 2024-09-30
- DOI
- https://doi.org/10.3390/genes15101289
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.23