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...
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: | |
Online Access: | https://www.mdpi.com/1422-0067/22/11/5598 |
Similar Items
-
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis
by: Mauro Scarpelli, et al.
Published: (2012-12-01) -
Penetrating diaphragmatic injury caused by a pencil
by: Singal A, et al.
Published: (2005-01-01) -
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
by: Cristina Domínguez-González, et al.
Published: (2021-10-01) -
Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia
by: S. A. Kurbatov, et al.
Published: (2019-11-01) -
Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides
by: Ferran Vila-Julià, et al.
Published: (2020-12-01)