| Term Name: | mitochondrial myopathy and ataxia |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0070750] ( DOID:0070750 ) |