Term Name: mitochondrial complex IV deficiency nuclear type 17
Synonyms: MC4DN17
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33.
Ontology: Human Disease [DOID:0070502]   ( DOID:0070502 )

Relationships
is a type of: autosomal recessive disease COX deficiency, benign infantile mitochondrial myopathy