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Published in 2018 at "Clinical Genetics"
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,…
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Keywords:
disrupt mitochondrial;
ndufaf3 variants;
variants disrupt;
complex ... See more keywords