title: Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.
authors.affiliation: Division of Neurology, Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Kenneth A
authors.initials: KA
authors.lastname: Myers
authors.forename: Jodi
authors.initials: J
authors.lastname: Warman Chardon
authors.forename: Lijia
authors.initials: L
authors.lastname: Huang
authors.forename: Kym M
authors.initials: KM
authors.lastname: Boycott
mesh_terms: D049069:ATP-Dependent Proteases / Q000235:genetics*; D000074183:ATPases Associated with Diverse Cellular Activities; D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D057895:Haploinsufficiency / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000473:pathology*; D055815:Young Adult
chemical_list: D049069:ATP-Dependent Proteases; C120699:AFG3L2 protein, human; D000074183:ATPases Associated with Diverse Cellular Activities