Article
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Brain pathology (Zurich, Switzerland) - 1 May 2023
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
Abstract excerpt
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 individual with clinical evidence of Leigh syndrome. Here, we describe three additional PTCD3 individuals from two...
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