title: Arena syndrome is caused by a missense mutation in PLP1.
authors.affiliation: JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA. res@ggc.org
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Patrick
authors.initials: P
authors.lastname: Tarpey
authors.forename: Melanie M
authors.initials: MM
authors.lastname: May
authors.forename: Michael R
authors.initials: MR
authors.lastname: Stratton
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
mesh_terms: D001479:Basal Ganglia / Q000378:metabolism; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D020125:Mutation, Missense; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics*; D013577:Syndrome; D013788:Thalamus / Q000378:metabolism
chemical_list: D018991:Myelin Proteolipid Protein; C472930:PLP1 protein, human; D007501:Iron