Infantile hypertrophic cardiomyopathy due to MRPL4
Også kjent som: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Engelsk navn: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Engelske synonym: COXPD16,Combined oxidative phosphorylation defect type 16
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.
Norsk nevromuskulært kompetansesamarbeid har kunnskap om diagnosen.
Klassifiseringsnivå: DisorderICD-10: E88.8