NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy

A Ishiyama1,2,3, K Muramatsu4,5, S Uchino6,7

  • 1Department of Child Neurology, National Center of Neurology and Psychiatry (NCNP), National Center Hospital, Tokyo, Japan.

Clinical Genetics
|January 19, 2018
PubMed
Summary

Genetic defects in mitochondrial complex I assembly factors cause leukoencephalopathy. This study identifies novel NDUFAF3 gene variations in a patient with severe leukoencephalopathy and mitochondrial dysfunction.

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