Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Background: Mitochondrial diseases due to deficiencies in the mitochondrial oxidative phosphorylation system (OXPHOS) can be associated with nuclear genes involved in mitochondrial translation, causing heterogeneous early onset and often fatal phenotypes. Case report: The authors describe the clinic...

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Detalles Bibliográficos
Autores principales: Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernández-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jiménez-Mallebrera, Cecilia, Armstrong, Judith, Montero, Raquel, Artuch, Rafael, Tischner, Christin, Wenz, Tina, McFarland, Robert, Taylor, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2015
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369643/
https://www.ncbi.nlm.nih.gov/pubmed/25852744
http://dx.doi.org/10.3389/fgene.2015.00102

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369643/
https://www.ncbi.nlm.nih.gov/pubmed/25852744
http://dx.doi.org/10.3389/fgene.2015.00102

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