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Myotonic dystrophy: Correlation of clinical symptoms with the size of the CTG trinucleotide repeat

✍ Scribed by Andrea Jaspert; Raimund Fahsold; Holger Grehl; Detlef Claus

Book ID
104994845
Publisher
Springer
Year
1995
Tongue
English
Weight
686 KB
Volume
242
Category
Article
ISSN
0340-5354

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Prediction of myotonic dystrophy clinica
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✍ Gennarelli, M.; Novelli F., G.; Bassi, Andreasi; Martorell, L.; Cornet, M.; Mene πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 637 KB

W e carried out a genotype-phenotype correlation study, based on clinical findings in 465 patients with myotonic dystrophy (DM), in order to assess [CTG] repeat number as a predictive test of disease severity. Our analysis showed that the DM subtypes defined by strict clinical criteria fall into thr