Key result
CTG repeat expansion degree shows no correlation with muscle immaturity in congenital myotonic dystrophy.
Why the study?
The relationship between CTG repeat size and histologic muscle immaturity in congenital myotonic dystrophy patients was unclear.
Observational (n=5)
The study found no correlation between skeletal muscle immaturity and CTG repeat expansion size in congenital myotonic dystrophy, suggesting other factors such as maternal influences may play a role.
Answers are grounded in this paper and cite their sources.
Does not support CTG repeat size as predictor of muscle immaturity in congenital myotonic dystrophy; leaves open maternal and other factors.
An approximate correlation has been demonstrated between the degree of CTG repeat expansion and clinical severity among myotonic dystrophy patients. Congenital myotonic dystrophy, which is the most severe form of the disease, has the largest size of CTG repeat. Muscle immaturity is a characteristic finding in congenital myotonic dystrophy muscle. We compared the CTG repeat size and histologic findings of skeletal muscle from patients with congenital myotonic dystrophy. An 8.6 kb or 9.8 kb plus an expanding band ranging from 15 kb to 17.5 kb was observed in muscle from five patients with congenital myotonic dystrophy by Southern blot analysis using EcoRI-digested DNAs probed with p5B1.4. There was no correlation between immaturity of skeletal muscle and the degree of CTG repeat expansion on skeletal muscle. Undetermined maternal factors may have an important role in the cause of immaturity of muscle in congenital myotonic dystrophy patients.
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Tachi et al. (1996) conducted an observational in Congenital myotonic dystrophy (n=5). CTG repeat expansion size was evaluated on Correlation between immaturity of skeletal muscle and the degree of CTG repeat expansion. The degree of CTG repeat expansion in skeletal muscle showed no correlation with muscle immaturity in patients with congenital myotonic dystrophy.
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