Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
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Sign InDescription
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.
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
3