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Titel:

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Dokumenttyp:
Journal Article
Autor(en):
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:
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 unrelated families, broadening the genetic and phenotypic spectrum of this disorder, and...     »
Zeitschriftentitel:
Brain Pathol
Jahr:
2023
Band / Volume:
33
Heft / Issue:
3
Volltext / DOI:
doi:10.1111/bpa.13134
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/36450274
Print-ISSN:
1015-6305
TUM Einrichtung:
Institut für Humangenetik
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