Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Mitochondrial translation defects are a continuously growing group of disorders showing a large variety of clinical symptoms including a wide range of neurological abnormalities. To date, mutations in PTCD3, encoding a component of the mitochondrial ribosome, have only been reported in a single indi...

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Detalles Bibliográficos
Autores principales: Muñoz‐Pujol, Gerard, Ortigoza‐Escobar, Juan D., Paredes‐Fuentes, Abraham J., Jou, Cristina, Ugarteburu, Olatz, Gort, Laura, Yubero, Delia, García‐Cazorla, Angels, O'Callaghan, Mar, Campistol, Jaume, Muchart, Jordi, Yépez, Vicente A., Gusic, Mirjana, Gagneur, Julien, Prokisch, Holger, Artuch, Rafael, Ribes, Antonia, Urreizti, Roser, Tort, Frederic
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154364/
https://www.ncbi.nlm.nih.gov/pubmed/36450274
http://dx.doi.org/10.1111/bpa.13134

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