infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD16
exact
MRPL44 combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation defect type 16
exact
combined oxidative phosphorylation deficiency 16
related
combined oxidative phosphorylation deficiency caused by mutation in MRPL44
exact
combined oxidative phosphorylation deficiency type 16
exact
SPBC3B9.14c