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Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.

Cardiology in the young - 1 Jul 2017

Mazurova Stella, Magner Martin, Kucerova-Vidrova Vendula, Vondrackova Alzbeta, Stranecky Viktor, Pristoupilova Anna, Zamecnik Josef, Hansikova Hana, Zeman Jiri, Tesarova Marketa, Honzik Tomas

Abstract excerpt

Cardiomyopathy is a common manifestation in neonates and infants with mitochondrial disorders. In this study, we report two cases manifesting with fatal mitochondrial hypertrophic cardiomyopathy, which include the third known patient with thymidine kinase 2 deficiency and the ninth patient with alanyl-tRNA synthetase 2 deficiency. The girl with thymidine kinase 2 deficiency had hypertrophic cardiomyopathy...

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Source

Identifiers

PMID: 27839525
DOI: 10.1017/S1047951116001876

Genes

AARS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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