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French Canadian Leigh disease
Summary
- Synonym
-
- French Canadian type COX deficiency
- French Canadian type Leigh syndrome
- French Canadian type cytochrome c oxidase deficiency
- Saguenay Lac saint Jean type COX deficiency
- Saguenay Lac saint Jean type Leigh syndrome
- mitochondrial complex IV deficiency nuclear type 5
- Definition
- A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.
- Super Class
- cytochrome-c oxidase deficiency disease
External Links
- Disease Ontology
- DOID:0111180
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P42704 | Leucine-rich PPR motif-containing protein, mitochondrial |
