Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

Large-scale mutation analysis is performed in genes located between markers DXS8080 and DXS7132 to identify the X-linked infantile spinal muscular atrophy (XL-SMA). It is indicated that XL-SMA is part of a growing list of neurodegenerative disorders associated with defects in the ubiquitin-proteasome pathway and that synonymous C ->T transitions have the potential to affect gene expression.