PET117

Mitochondrial complex IV deficiency, nuclear type 19

MC4DN19

An autosomal recessive mitochondrial disorder with onset in infancy or early childhood. MC4DN19 is characterized by global developmental delay, impaired intellectual development, developmental regression, loss of acquired motor and language skills, and motor dysfunction. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.

None

The disease may be caused by variants affecting the gene represented in this entry.

Belongs to the PET117 family.

• Mitochondrion

UNQ607/PRO1194, PET117

• entrezGene:100303755
• omim:614771
• swissprot:Q6UWS5

Proteins

Immunology & Infectious Disease

9223Da