Lethal neonatal mitochondrial phenotype caused by a novel polymerase subunit gamma mutation: A case report

RATIONALE: Polymerase subunit gamma (POLG) is a gene that codes for the catalytic subunit of the mitochondrial DNA polymerase, which is involved in the replication of mitochondrial DNA. Mutations in these genes are associated with a range of clinical syndromes characterized by secondary mtDNA defect...

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Detalles Bibliográficos
Autores principales: AlJabri, Mohamed F., Kamal, Naglaa M., Halabi, Abdulrahman, Korbi, Haifa, Alsayyali, Mashhour M.A., Alzahrani, Yahea A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200512/
https://www.ncbi.nlm.nih.gov/pubmed/30290626
http://dx.doi.org/10.1097/MD.0000000000012591

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200512/
https://www.ncbi.nlm.nih.gov/pubmed/30290626
http://dx.doi.org/10.1097/MD.0000000000012591

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