miércoles, 11 de julio de 2018

MEPAN Syndrome: Updates

MEPAN Syndrome: Updates





RARECONNECT



MEPAN Syndrome is a neurometabolic disorder caused by defective mitochondrial fatty acid synthesis. It presents with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI. Affected individuals harbor recessive 

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