NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy
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DOI: 10.1111/cge.13215
Abstract: Genetic abnormalities in mitochondrial complex assembling factors are associated with leukoencephalopathy. We present a 1‐year‐old girl with consciousness disturbance after a respiratory infection. Brain MRI revealed leukoencephalopathy with bilaterally symmetrical hyperintensity in the substantia nigra,… read more here.
Keywords: disrupt mitochondrial; ndufaf3 variants; variants disrupt; complex ... See more keywords