Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing
Because congenital DM1 is most often maternally inherited, attention to maternal symptoms, physical examination, and family history can be helpful in recognizing cases. Molecular diagnosis of DM1 requires specialized testing of the 3' untranslated region of the DMPK gene, and DM1 will not be detected by current standard prenatal genetic testing with microarray, karyotype, or exome sequencing.
Authors
- Matthew A. Shear (ORCID: https://orcid.org/0000-0003-4134-5665)
- Joseph T.C. Shieh
- Dawn Gano (ORCID: https://orcid.org/0000-0003-4192-2362)
- Orit A. Glenn
- Monica Penon‐Portmann (ORCID: https://orcid.org/0000-0002-3011-440X)
- Shilpa Chetty
- Teresa N. Sparks (ORCID: https://orcid.org/0000-0002-8593-2186)
- Mari-Paule Thiet
Institutions
- Hesco (United States) (US)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-10-04
- DOI
- https://doi.org/10.1212/nxg.0000000000200171
- Citations
- 3
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.80