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| Status |
Public on Apr 05, 2015 |
| Title |
Transcriptome analysis of Myotonic Dystrophy type 2 (DM2) patients. |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Myotonic Dystrophy Type-2 (DM2) is an autosomal dominant disease caused by the expansion of a CCTG tetraplet repeat. It is a multisystemic disorder, affecting skeletal muscles, the heart, the eye, the central nervous system and the endocrine system.
Whole mRNAs expression was measured in the muscle of DM2 patients and compared it to controls.We identified distinct genes modulated in DM2 patients compared to controls.
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| Overall design |
Our study included 10 DM2 and 10 control (CTR) muscle biopsies from biceps brachii. DM2 and CTR were age- and sex- matched. Most DM2 patients had myotonia and cataract, two disease hallmarks, while differences in other clinical parameters (muscle strenght, diabetes, CPK, FT3, FT4, TSH, ejection fraction) were not significant. Genes expression was assessed by Affymetrix Gene Chip Human Exon 1.0 ST Array.
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| Contributor(s) |
Greco S, Fasanaro P, Perfetti A, Meola G, Martelli F |
| Citation(s) |
24722564 |
| Submission date |
Apr 06, 2012 |
| Last update date |
Feb 18, 2019 |
| Contact name |
Fabio Martelli |
| E-mail(s) |
fabio.martelli@grupposandonato.it
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| Phone |
+390252774533
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| Organization name |
IRCCS-Policlinico San Donato
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| Lab |
Molecular Cardiology
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| Street address |
via morandi 30
|
| City |
Milan |
| ZIP/Postal code |
20097 |
| Country |
Italy |
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| Platforms (1) |
| GPL5175 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [transcript (gene) version] |
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| Samples (20)
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| Relations |
| BioProject |
PRJNA158103 |
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