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. 1998 Feb;35(2):94–98. doi: 10.1136/jmg.35.2.94

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

Y J Crow 1, S M Zuberi 1, R McWilliam 1, J L Tolmie 1, A Hollman 1, K Pohl 1, J B Stephenson 1
PMCID: PMC1051210  PMID: 9507386

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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