A variant of uncertain significance in SDHAF1, the succinate dehydrogenase chaperone protein, in an adult patient with spastic paraparesis and leukoencephalopathy.
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DOI: 10.1016/j.msard.2021.103132
Abstract: Succinate dehydrogenase (SDH), or respiratory complex II, consists of four nuclear-encoded subunits. The chaperone protein succinate dehydrogenase assembly factor 1 (SDHAF1) plays an essential role in the assembly of SDH, and in the incorporation of… read more here.
Keywords: chaperone protein; uncertain significance; variant uncertain; sdhaf1 ... See more keywords