thymidine has been researched along with Leigh Disease in 2 studies
Leigh Disease: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
| Excerpt | Relevance | Reference |
|---|---|---|
| "This study reports on a patient with Leigh syndrome with a T-to-C mutation at nucleotide 8993 of mitochondrial deoxyribonucleic acid (T8993C)." | 1.30 | Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome. ( Fujii, T; Hattori, H; Higuchi, Y; Mitsuyoshi, I; Tsuji, M, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (50.00) | 18.2507 |
| 2000's | 1 (50.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Fujii, T | 1 |
| Hattori, H | 1 |
| Higuchi, Y | 1 |
| Tsuji, M | 1 |
| Mitsuyoshi, I | 1 |
| Hayashi, N | 1 |
| Geraghty, MT | 1 |
| Green, WR | 1 |
2 other studies available for thymidine and Leigh Disease
| Article | Year |
|---|---|
Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome.
Topics: Child, Preschool; Cytidine; DNA, Mitochondrial; Female; Guanine; Humans; Leigh Disease; Phenotype; P | 1998 |
Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.
Topics: Ciliary Body; DNA Mutational Analysis; DNA, Mitochondrial; Endothelium, Corneal; Epithelium; Eye Dis | 2000 |