Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

PURPOSE: Members of the mitochondrial carrier family (SLC25) transport metabolites, nucleotides, co-factors and inorganic ions across the mitochondrial inner membrane. METHODS: We identified a pathogenic variant in a novel mitochondrial carrier gene in a patient by whole exome sequencing. The pathog...

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Detalles Bibliográficos
Autores principales: Boczonadi, Veronika, King, Martin S., Smith, Anthony C., Olahova, Monika, Bansagi, Boglarka, Roos, Andreas, Eyassu, Filmon, Borchers, Christoph, Ramesh, Venkateswaran, Lochmüller, Hanns, Polvikoski, Tuomo, Whittaker, Roger G., Pyle, Angela, Griffin, Helen, Taylor, Robert W., Chinnery, Patrick F., Robinson, Alan J., Kunji, Edmund R.S., Horvath, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004311/
https://www.ncbi.nlm.nih.gov/pubmed/29517768
http://dx.doi.org/10.1038/gim.2017.251

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004311/
https://www.ncbi.nlm.nih.gov/pubmed/29517768
http://dx.doi.org/10.1038/gim.2017.251

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