Associated Papers
Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.
Martín-Jimenez P et al.
Journal of Inherited Metabolic Disease, 2026
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Pathological Features in Paediatric Patients with TK2 Deficiency.
Jou C et al.
International Journal of Molecular Sciences, 2022
36232299 (PubMed )
Supplement: ijms-23-11002-s001.zip › ijms-1887978-supplementary.pdf
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
30634555 (PubMed )
Supplement: jcm-08-00068-s001.pdf
[TK2 mutations and late onset myopathy: first description in a Mexican patient].
Castro-Macias JI et al.
Revista De Neurologia, 2018
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