CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency
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DOI: 10.1093/hmg/ddx436
Abstract: Mutations in the mitochondrially located protein CHCHD10 cause motoneuron disease by an unknown mechanism. In this study, we investigate the mutations p.R15L and p.G66V in comparison to wild-type CHCHD10 and the non-pathogenic variant p.P34S in… read more here.
Keywords: motoneuron disease; cause motoneuron; mutations r15l; chchd10 ... See more keywords