Mitochondrial Myopathy Associated with Thymidine Kinase-2 Enzyme Deficiency in a Child of the First Year of Life: Case Report
Background. Mitochondrial myopathy caused by mutations in the gene encoding the mitochondrial enzyme thymidine kinase-2, located on chromosome 16 at locus 16q21 (hereinafter TK2-associated mitochondrial myopathy, OMIM: #609560), is a rare autosomal recessive genetic pathology characterized by impair...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Union of pediatricians of Russia
2025-05-01
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| Series: | Педиатрическая фармакология |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/2606 |
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