Risk Prediction for Clinical Phenotype in Myotonic Dystrophy Type 1: Data from 2,650 Patients-Reference-Cited by-同舟云学术

Risk Prediction for Clinical Phenotype in Myotonic Dystrophy Type 1: Data from 2,650 Patients

Published:2007-04 Issue:1 Volume:11 Page:84-90
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Salehi Leila Baghernajad¹,Bonifazi Emanuela¹,Stasio Enrico Di²,Gennarelli Massimo³,Botta Annalisa¹,Vallo Laura¹,Iraci Raniero⁴,Massa Roberto⁵⁶,Antonini Giovanni⁷,Angelini Corrado⁸,Novelli Giuseppe¹⁴⁹

Affiliation:

1. Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.

2. Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Rome, Italy.

3. Genetics Unit, IRCCS San Giovanni di Dio, “Fatebenefratelli Hospital,” Brescia, Italy.

4. Arkansas University for Medical School, Little Rock, Arkansas.

5. Department of Neuroscience, Tor Vergata University of Rome, Rome, Italy.

6. CERC/IRCCS Santa Lucia, Rome, Italy.

7. Neurological Clinic, II Faculty of Medicine, University La Sapienza, Rome, Italy.

8. Department of Neuroscience, Venetian Institute of Molecular Medicine, Padua, Italy.

9. Fondazione Livio Patrizi, Rome, Italy.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.0511

Reference25 articles.

1. Cloning of the essential myotonic dystrophy region and mapping of the putative defect

2. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

3. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

4. Triplet repeat mutations in human disease

5. Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

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