"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.
Department of Clinical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, UK.
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.
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
Relevant Article
- "Cataplexy" in Coffin-Lowry syndrome.
- J P Fryns, E Smeets
J. Med. Genet. 1998 35: 702.[PDF]
This article has been cited by other articles:
-
Nelson, G. B., Hahn, J. S.
(2003). Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome. Pediatrics
111: e197-202
[Abstract] [Full Text] -
Hanauer, A, Young, I D
(2002). Coffin-Lowry syndrome: clinical and molecular features. J. Med. Genet.
39: 705-713
[Abstract] [Full Text] -
Harum, K. H., Alemi, L., Johnston, M. V.
(2001). Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation. Neurology
56: 207-214
[Abstract] [Full Text] -
Manouvrier-Hanu, S, Amiel, J, Jacquot, S, Merienne, K, Moerman, A, Coëslier, A, Labarriere, F, Vallée, L, Croquette, M F, Hanauer, A
(1999). Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. J. Med. Genet.
36: 775-778
[Abstract] [Full Text]
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
