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 )

Relationships
is a type of: autosomal recessive disease mitochondrial DNA depletion syndrome mitochondrial myopathy