mitochondrial myopathy

Summary
Synonym
  • mitochondrial cytopathy
Definition
A myopathy that is characterized by mitochondrial dysfunction.
Super Class
myopathy
External Links
Disease Ontology
DOID:699
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 26 in total
Gene ID Gene Symbol Description Source
31 ACACA acetyl-CoA carboxylase alpha
51 ACOX1 acyl-CoA oxidase 1
217 ALDH2 aldehyde dehydrogenase 2 family member
353 APRT adenine phosphoribosyltransferase
410 ARSA arylsulfatase A
1376 CPT2 carnitine palmitoyltransferase 2
1431 CS citrate synthase
1890 TYMP thymidine phosphorylase
2350 FOLR2 folate receptor beta
2548 GAA alpha glucosidase
Related Glycoprotein
Displaying entries 21 - 22 of 22 in total
UniProt ID Protein Name Source
Q6ZMG9 Ceramide synthase 6
Q9C0K1 Metal cation symporter ZIP8

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024