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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)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory