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| Status |
Public on Aug 27, 2012 |
| Title |
microRNAs expression profile in Myotonic Dystrophy type-2 (DM2) patients |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by RT-PCR
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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
The expression of 365 miRNAs was measured in the muscle of DM2 patients and compared it to controls and were identified distinct miRNAs modulated in DM2 patients compared to controls.
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| Overall design |
Our study included 10 DM2 and 9 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. miRNAs expression was assessed by Applied Biosystems Human TaqMan Low Density Array (TLDA, v1.0).
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| Contributor(s) |
Greco S, Fasanaro P, Perfetti A, Meola G, Martelli F |
| Citation(s) |
22768114 |
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| Submission date |
May 06, 2012 |
| Last update date |
Dec 10, 2012 |
| 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
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| City |
Milan |
| ZIP/Postal code |
20097 |
| Country |
Italy |
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| Platforms (1) |
| GPL9460 |
Applied Biosystems Human TaqMan Low Density Array (TLDA, v1.0) |
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| Samples (19)
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| Relations |
| BioProject |
PRJNA163353 |
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