mitochondrial myopathy and ataxia

Term ID

DOID:0070750

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. https://pubmed.ncbi.nlm.nih.gov/31463572/

References

• MIM:617675
• ORDO:502423
• SNOMEDCT_US_2026_03_01:1237514002
• UMLS_CUI:C4540096

Ontology

Human Disease   ( DOID:0070750 )