C4749946_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency and characteristics of hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-ophthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. Caused by homozygous mutation in the MRPL44 gene on chromosome 2.
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?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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