title: Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.
authors.affiliation: Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen.
authors.forename: Tim W
authors.initials: TW
authors.lastname: Rattay
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
authors.forename: Christian
authors.initials: C
authors.lastname: Wilhelm
authors.forename: Matthis
authors.initials: M
authors.lastname: Synofzik
mesh_terms: D005260:Female; D017353:Gene Deletion; D006801:Humans; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics; D012497:Sandhoff Disease / Q000175:diagnosis* / Q000235:genetics*; D054821:beta-Hexosaminidase beta Chain / Q000235:genetics*
chemical_list: C513386:HEXB protein, human; D054821:beta-Hexosaminidase beta Chain