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Article

Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.

Journal of inherited metabolic disease - 1 Jun 2001

Tóth G, Morava E, Bene J, Selhorst J J, Overmars H, Vreken P, Molnár J, Farkas V, Melegh B

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Share to Carnitine
Share to Cerebellar Ataxia
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Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11486914
DOI: 10.1023/a:1010537527291

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.PMID 11486914Read ↗

Rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T>G mutation.Semantic proximity Read ↗

[Adult leigh syndrome with mitochondrial DNA mutation at 8993--mutation ratio analysis on formalin-fixed autopsy tissues].Semantic proximity Read ↗

Unusual findings in Leigh syndrome caused by T8993C mutation.Semantic proximity Read ↗

[Carnitine acylcarnitine translocase deficiency].Semantic proximity Read ↗

[Carnitine acylcarnitine translocase deficiency].Semantic proximity Read ↗

Metabolic inflexibility and unusual catabolism in Leigh-like syndrome due to m.10191T>C.Semantic proximity Read ↗

Adult-Onset Leigh Syndrome Due to an m.13513G>A Mutation.Semantic proximity Read ↗

A novel presentation of inappropriate antidiuretic hormone secretion in Leigh syndrome with the myoclonic epilepsy and ragged red fibers, mitochondrial DNA 8344A>G mutation.Semantic proximity Read ↗

Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome.Semantic proximity Read ↗

[A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation].Semantic proximity Read ↗

Adult-onset Leigh syndrome with central fever and peripheral neuropathy due to mitochondrial 9176T>C mutation.Semantic proximity Read ↗

Cerebellar Stroke-Like Lesion in an m.13513G>A Carrier with Leigh Syndrome.Semantic proximity Read ↗

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