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.

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Informasjon

Norsk nevromuskulært kompetansesamarbeid har kunnskap om diagnosen.

ORPHA: 352563
Klassifiseringsnivå: Disorder
ICD-10: E88.8



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