mitochondrial complex IV deficiency nuclear type 8

Term ID

DOID:0070495

Synonyms

• MC4DN8

Definition

A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. https://pubmed.ncbi.nlm.nih.gov/20727754/

References

• OMIM:619052
• UMLS_CUI:C5436689

Ontology

Human Disease   ( DOID:0070495 )