title: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
authors.affiliation: 1 Montreal Neurological Institute, McGill University, Montreal, Québec, Canada 2 Department of Human Genetics, McGill University, Montreal, Québec, Canada.
authors.forename: Karine
authors.initials: K
authors.lastname: Choquet
authors.affiliation: 1 Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.
authors.forename: Olga
authors.initials: O
authors.lastname: Zurita-Rendón
authors.affiliation: 1 Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.
authors.forename: Roberta
authors.initials: R
authors.lastname: La Piana
authors.affiliation: 1 Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.
authors.forename: Sharon
authors.initials: S
authors.lastname: Yang
authors.affiliation: 1 Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Dicaire
authors.affiliation: 3 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Kym M
authors.initials: KM
authors.lastname: Boycott
authors.affiliation: 2 Department of Human Genetics, McGill University, Montreal, Québec, Canada 4 McGill University and Genome Quebec Innovation Centre, Montreal, Québec, Canada.
authors.forename: Jacek
authors.initials: J
authors.lastname: Majewski
authors.affiliation: 1 Montreal Neurological Institute, McGill University, Montreal, Québec, Canada 2 Department of Human Genetics, McGill University, Montreal, Québec, Canada.
authors.forename: Eric A
authors.initials: EA
authors.lastname: Shoubridge
authors.affiliation: 1 Montreal Neurological Institute, McGill University, Montreal, Québec, Canada 2 Department of Human Genetics, McGill University, Montreal, Québec, Canada.
authors.forename: Bernard
authors.initials: B
authors.lastname: Brais
authors.affiliation: 2 Department of Human Genetics, McGill University, Montreal, Québec, Canada 4 McGill University and Genome Quebec Innovation Centre, Montreal, Québec, Canada martine.tetreault@mail.mcgill.ca.
authors.forename: Martine
authors.initials: M
authors.lastname: Tétreault
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D000096122:Mitochondrial Processing Peptidase
chemical_list: D008666:Metalloendopeptidases; D000096122:Mitochondrial Processing Peptidase