Kw 1274
cv_term_accession
KW-1274
canonical
uniprot_keyword
KW-1274
canonical
name
Primary mitochondrial disease
uniprot
synonym
Mitochondrial disorder
uniprot
synonym
Mitochondrial encephalomyopathy
uniprot
synonym
Mitochondrial myopathy
uniprot
synonym
Oxidative phosphorylation disorder
uniprot
synonym
PMD
uniprot
synonym
Respiratory chain disorder
uniprot
definition
Protein which, if defective, causes any one of a clinically heterogeneous group of disorders arising from dysfunction of the mitochondrial respiratory chain. The phenotypic spectrum ranges from isolated diseases affecting single organs to severe multisystem disorders. Common clinical features include ptosis, external ophthalmoplegia, proximal myopathy and exercise intolerance, cardiomyopathy, sensorineural deafness, optic atrophy, pigmentary retinopathy, encephalopathy, seizures, stroke-like episodes, ataxia, and spasticity. Mitochondrial disorders can be caused by mutations of mitochondrial DNA or nuclear DNA that either affect oxidative phosphorylation proteins directly, or affect respiratory chain function by impacting the production of the complex machinery needed to run this process.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords