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NEUROLOGY 2006;66:1248-1250
© 2006 American Academy of Neurology
Brief Communications

Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions

M. -E. Arsenault, MD, C. Prévost, MSc, A. Lescault, PhD, C. Laberge, MD, PhD, J. Puymirat, MD, PhD and J. Mathieu, MD, MSc

From the Neuromuscular Clinic (M.-E.A., J.M.), Carrefour de Santé de Jonquière, Quebec, Canada; Division of Genetic Counselling (C.P.), Centre de santé et des services sociaux de Chicoutimi, Chicoutimi, Quebec, Canada; Unit of Human Genetics (A.L., C.L., J.P.), Centre Hospitalier de l'Université Laval, Quebec, Canada; and Community Genomic Medicine Center (J.M.), University of Montreal, Montreal, Quebec, Canada.

Address correspondence and reprint requests to Dr. Marie-Ève Arsenault, Neuromuscular Clinic, Carrefour de Santé de Jonquière, 2230 rue de l'Hôpital, Jonquière, Quebec, Canada, G7X 7X2; e-mail: marigol{at}hotmail.com

The authors report a genotype-phenotype correlation study in 102 patients with myotonic dystrophy type 1 carrying small CTG repeat expansions. Most patients carrying 50 to 99 CTG repeats were asymptomatic, except for cataracts. Myotonia, weakness, excessive daytime sleepiness, and myotonic discharges at EMG were significantly more present in the patients with 100 to 200 CTG repeats. These findings highlight different outcomes related to the expansion size, even among small CTG expansions.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the April 25 issue to find the title link for this article.

This research was supported by the Neuromuscular Partnership Program of Muscular Dystrophy Canada and the Canadian Institutes of Health Research (CIHR) (#MOP49556) and ECOGENE-21, a research program in community genetics and genomics supported by the Canada Research Chairs Program and by the CIHR (#CAR43283).

Disclosure: The authors report no conflicts of interest.

Received September 12, 2005. Accepted in final form January 4, 2006.




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A Botta, F Rinaldi, C Catalli, L Vergani, E Bonifazi, V Romeo, E Loro, A Viola, C Angelini, and G Novelli
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients
J. Med. Genet., October 1, 2008; 45(10): 639 - 646.
[Abstract] [Full Text] [PDF]


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