Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study

Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study

Our goal was to analyze <i>post</i><i>mortem</i> tissues of an adult patient with late-onset thymidine kinase 2 (TK2) deficiency who died of respiratory failure. Compared with control tissues, we found a low mtDNA content in the patient’s skeletal muscle, liver, kidney, small...

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Bibliographic Details
Main Authors: Sara Laine-Menéndez, Cristina Domínguez-González, Alberto Blázquez, Aitor Delmiro, Inés García-Consuegra, Miguel Fernández-de la Torre, Aurelio Hernández-Laín, Javier Sayas, Miguel Ángel Martín, María Morán
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:International Journal of Molecular Sciences
Subjects:
mitochondrial diseases
diaphragm
thymidine kinase 2
respiratory failure
Online Access:https://www.mdpi.com/1422-0067/22/11/5598

Internet

https://www.mdpi.com/1422-0067/22/11/5598

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