title: A novel, unstable DNA mutation cracks decades-old clinical enigma.
authors.forename: T
authors.initials: T
authors.lastname: Randall
mesh_terms: D001483:Base Sequence; D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D016601:RNA-Binding Proteins
chemical_list: D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human