'Cataplexy' and muscle ultrasound abnormalities in Coffin-Lowry syndrome

Y. J. Crow, S. M. Zuberi, R. McWilliam, J. L. Tolmie, A. Hollman, K. Pohl, J. B P Stephenson

    Research output: Contribution to journalArticlepeer-review

    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.
    Original languageEnglish
    Pages (from-to)94-98
    Number of pages4
    JournalJournal of Medical Genetics
    Volume35
    Issue number2
    Publication statusPublished - 1998

    Keywords

    • Cataplexy
    • Coffin-Lowry syndrome
    • Muscle ultrasound abnormalities

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