A novel complex neurological phenotype due to a homozygous mutation in FDX2
This study describes a novel complex neurological phenotype with unusual MRI and muscle biopsy features, conclusively mapped to a mutation inFDX2, which encodes a ubiquitously expressed mitochondrial ferredoxin essential for early [Fe-S] cluster biogenesis.
Source: Brain - Category: Neurology Source Type: research
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