title: "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.
abstract: The Coffin-Lowry syndrome is a rare cause of mental retardation recognised by its distinctive facial and digital features. We have observed an unusual, non-epileptic, cataplexy-like phenomenon in three subjects with the syndrome and we speculate that this feature may go unrecognised. We also provide evidence of neuromuscular dysfunction as part of the phenotype by showing abnormalities on muscle ultrasound in four gene carriers.
authors.affiliation: Department of Clinical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, UK.
authors.forename: Y J
authors.initials: YJ
authors.lastname: Crow
authors.forename: S M
authors.initials: SM
authors.lastname: Zuberi
authors.forename: R
authors.initials: R
authors.lastname: McWilliam
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: A
authors.initials: A
authors.lastname: Hollman
authors.forename: K
authors.initials: K
authors.lastname: Pohl
authors.forename: J B
authors.initials: JB
authors.lastname: Stephenson
mesh_terms: D002385:Cataplexy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D004562:Electrocardiography; D004569:Electroencephalography; D004576:Electromyography; D005145:Face / Q000002:abnormalities; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging*; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009622:Noise / Q000009:adverse effects; D013577:Syndrome; D014463:Ultrasonography; D014960:X Chromosome