Overview

Leigh syndrome


Related Overviews

 

'Leigh syndrome' can also refer to...

Leigh syndrome

Leigh syndrome

Leigh's syndrome

Leigh syndrome

Leigh syndrome

Leigh syndrome (1915–98)

Leigh syndrome: the genetic heterogeneity story continues

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome

Expression and Functional Analysis of SURF1 in Leigh Syndrome Patients With Cytochrome c Oxidase Deficiency

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

A Single Cell Complementation Class is Common to Several Cases of Cytochrome c Oxidase-Defective Leigh's Syndrome

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology

 

More Like This

Show all results sharing this subject:

  • Chemistry

GO

Show Summary Details

Quick Reference

An early-onset progressive neurodegenerative disorder with considerable genetic heterogeneity; mutations have been identified in both nuclear- and mitochondrial-encoded genes that are involved in energy metabolism.

Subjects: Chemistry.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.