You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
X Demographics
Mendeley readers
| Title |
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects
|
|---|---|
| Published in |
Neurological Sciences, January 2017
|
| DOI | 10.1007/s10072-016-2805-5 |
| Pubmed ID | |
| Authors |
Giovanni Meola, Rosanna Cardani |
| Abstract |
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. To date, two distinct forms caused by similar mutations in two different genes have been identified: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of function has been suggested to cause the complex phenotype in DM1 and DM2. However, despite clinical and genetic similarities, DM1 and DM2 may be considered as distinct disorders. This review is an update on the latest findings specific to DM2, including explanations for the differences in clinical manifestations and pathophysiology between the two forms of myotonic dystrophies. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 75 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 75 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 13 | 17% |
| Researcher | 12 | 16% |
| Student > Ph. D. Student | 9 | 12% |
| Student > Master | 6 | 8% |
| Professor | 5 | 7% |
| Other | 11 | 15% |
| Unknown | 19 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 20 | 27% |
| Biochemistry, Genetics and Molecular Biology | 18 | 24% |
| Neuroscience | 5 | 7% |
| Agricultural and Biological Sciences | 4 | 5% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 3% |
| Other | 6 | 8% |
| Unknown | 20 | 27% |