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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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| Publicado no: | Medicine (Baltimore) |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Health
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6200512/ https://ncbi.nlm.nih.gov/pubmed/30290626 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000012591 |
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