title: A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28.
authors.affiliation: Boston University School of Medicine, 72 E. Concord Street, Boston, MA 02118, United States. Electronic address: jqu@bu.edu.
authors.forename: Jane
authors.initials: J
authors.lastname: Qu
authors.affiliation: Boston University School of Medicine, 72 E. Concord Street, Boston, MA 02118, United States. Electronic address: ckwu@bu.edu.
authors.forename: Connie K
authors.initials: CK
authors.lastname: Wu
authors.affiliation: Boston University School of Medicine, Department of Neurology, 72 E. Concord St, C3, Boston, MA 02118, United States. Electronic address: rafzuzu@bu.edu.
authors.forename: José Rafael P
authors.initials: JR
authors.lastname: Zuzuárregui
authors.affiliation: Boston University School of Medicine, Department of Neurology, 72 E. Concord St, C3, Boston, MA 02118, United States. Electronic address: Anna.Hohler@bmc.org.
authors.forename: Anna D
authors.initials: AD
authors.lastname: Hohler
mesh_terms: D049069:ATP-Dependent Proteases / Q000235:genetics*; D000074183:ATPases Associated with Diverse Cellular Activities; D000368:Aged; D006801:Humans; D008297:Male; D009154:Mutation; D012998:Somalia; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
chemical_list: D049069:ATP-Dependent Proteases; C120699:AFG3L2 protein, human; D000074183:ATPases Associated with Diverse Cellular Activities
keywords: AFG3L2; African descent; SCA28; Spinocerebellar ataxia