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Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

✍ Scribed by Tsilfidis, Catherine; MacKenzie, Alex E.; Mettler, Gabrielle; Barceló, Juana; Korneluk, Robert G.


Book ID
109916179
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
513 KB
Volume
1
Category
Article
ISSN
1061-4036

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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