Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.

doi:10.1002/jimd.70147

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Article

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.

Journal of inherited metabolic disease - 1 Jan 2026

Martín-Jimenez Paloma, Bermejo-Guerrero Laura, Ochoa Luz Edith, Navarro-Riquelme María, Garrido-Moraga Rocío, Hernández-Laín Aurelio, Hernández-Voth Ana, González Quintana Adrián, Bermejo-Moriñigo Ana, González-Méndez Violeta, Martín-Arriscado Arroba Cristina, Smirnov Dimitrii, Konstantinovskiy Nikita, Arenas Joaquín, Martin Miguel Ángel, Blázquez Alberto, Domínguez-González Cristina

Abstract excerpt

Thymidine kinase 2 deficiency (TK2d) is an ultra-rare autosomal recessive mitochondrial myopathy with variable presentations, including late-onset forms beginning after age 12. Unlike early-onset disease, the natural history of late-onset TK2d remains poorly defined. We conducted a prospective, single-centre natural history study of 11 untreated patients with late-onset TK2d over 24 months. The median age at...

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Identifiers

PMID: 41571587
DOI: 10.1002/jimd.70147
PMCID: PMC12827020

Genes

TK2
GDF15

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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