Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation
Keywords: HSP; hereditary spastic paraplegia; SPG11; spastic paraplegia type 11; MRI; magnetic resonance imaging; NGS; next-generation sequencing; SSD; splice site donor; WES; whole exome sequencing; NMD; nonsense-mediated mRNA decay; Spastic paraplegia; SPG11; Who