Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy
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DOI: 10.1093/brain/awac424
Abstract: Distal hereditary motor neuropathies (dHMNs) are a group of inherited diseases involving the progressive, length-dependent axonal degeneration of the lower motor neurons. There are currently 29 reported causative genes and 4 disease loci implicated in… read more here.
Keywords: distal hereditary; gene intergenic; motor; intergenic fusion ... See more keywords