Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland
The differences in age-adjusted prevalence suggest that the overall point prevalence is an underestimation due to underdiagnosis in younger age groups and lethality in oldest age group. Our data supports use of cascade testing to improve DM1 ascertainment.
Authors
- Eiríkur Briem (ORCID: https://orcid.org/0000-0001-7383-3570)
- Vigdís Stefánsdóttir (ORCID: https://orcid.org/0000-0003-4451-3126)
- Sigurlaug Sveinbjörnsdóttir
- Ólafur Sveinsson (ORCID: https://orcid.org/0000-0002-4507-2935)
- Jón J. Jónsson (ORCID: https://orcid.org/0000-0001-5084-8374)
- Hildigunnur Ólafsdóttir
- E. G. Hallgrímsdóttir
- Haukur Svansson
Institutions
- University of Iceland (IS)
- Queen Mary University of London (GB)
- European University Cyprus (CY)
- Aarhus University (DK)
- National University Hospital of Iceland (IS)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-10-01
- DOI
- https://doi.org/10.1002/mgg3.70013
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00