Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation

Mitochondrial dysfunction is known to play a key role in the pathophysiological pathway of neurodegenerative disorders. Nuclear-encoded proteins are involved in mtDNA replication, including DNA polymerase gamma, which is the only known replicative mtDNA polymerase, encoded by nuclear genes Polymeras...

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Detalles Bibliográficos
Autores principales: Lehmann Urban, Diana, Motlagh Scholle, Leila, Alt, Kerstin, Ludolph, Albert C., Rosenbohm, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168901/
https://www.ncbi.nlm.nih.gov/pubmed/31991853
http://dx.doi.org/10.3390/diagnostics10020068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168901/
https://www.ncbi.nlm.nih.gov/pubmed/31991853
http://dx.doi.org/10.3390/diagnostics10020068

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