Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions.
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.
Arsenault
M-E
ME
Neuromuscular Clinic, Carrefour de Santé de Jonquière, Quebec, Canada. marigol@hotmail.com
Prévost
C
C
Lescault
A
A
Laberge
C
C
Puymirat
J
J
Mathieu
J
J
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000145:classification* / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D012720:Severity of Illness Index; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*