combined oxidative phosphorylation deficiency 56

info · Genetic

A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25.

Signs and symptoms

Lethargy
Elevated circulating creatine kinase activity
Hypotonia
Global developmental delay
Areflexia
Delayed gross motor development
Decreased activity of mitochondrial complex I
Ptosis
Decreased activity of mitochondrial complex IV
Proximal muscle weakness

Also known as: COXPD56