A novel VARS2 gene variant in a patient with epileptic encephalopathy

Background: Mitochondrial disorders are heterogeneous clinical syndromes caused by defective activity in the mitochondrial respiratory chain, resulting in a faulty oxidative phosphorylation system. These inherited disorders are individually rare, and furthermore they are phenotypic variables. The ge...

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Detalles Bibliográficos
Autores principales: Ruzman, Lucija, Kolic, Ivana, Radic Nisevic, Jelena, Ruzic Barsic, Antonija, Skarpa Prpic, Ingrid, Prpic, Igor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6968568/
https://www.ncbi.nlm.nih.gov/pubmed/31623496
http://dx.doi.org/10.1080/03009734.2019.1670297

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6968568/
https://www.ncbi.nlm.nih.gov/pubmed/31623496
http://dx.doi.org/10.1080/03009734.2019.1670297

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