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Neurology. 2006 Apr 25;66(8):1248-50.

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

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  • 1Neuromuscular Clinic, Carrefour de Santé de Jonquière, Quebec, Canada.


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.

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