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"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.
Crow YJ, Zuberi S, McWilliam R, Tolmie J, Hollman A, Pohl K, Stephenson J
J Med Genet. 1998;35( 2):94-8.
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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.
Keyword(s)
Electrocardiography; Electroencephalography; Electromyography; Facies; Female; Humans; Infant; Linkage (Genetics); Magnetic Resonance Imaging; Male; Syndrome; X Chromosome; abnormalities: Face; abnormalities: Fingers; adverse effects: Noise; diagnosis: Cataplexy; diagnosis: Neuromuscular Diseases; genetics: Mental Retardation; genetics: Musculoskeletal Abnormalities; ultrasonography: Muscle, Skeletal