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Disease Ontology Browser
mitochondrial myopathy and ataxia (DOID:0070750)
Alliance: disease page
Alt IDs: OMIM:617675, ORDO:502423, UMLS_CUI:C4540096
Definition: A mitochondrial DNA depletion syndrome characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MSTO1 gene on chromosome 1q22.

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
05/26/2026
MGI 6.24 		The Jackson Laboratory