About   Help   FAQ
Disease Ontology Browser
isolated mitochondrial myopathy (DOID:0081357)
Alliance: disease page
Synonyms: Autosomal dominant mitochondrial myopathy with exercise intolerance
Alt IDs: OMIM:616209, ORDO:457050
Definition: A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory