A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family
We conclude that a single heterozygous nonsense variant in titin occasionally can cause a dominant myopathy as shown in this large family. Therefore, monoallelic titin truncating variants should be considered as possible disease-causing variants in unsolved patients with a dominant myopathy. However, large segregation studies, muscle imaging, and RNA and protein assays are needed to support the clinical and genetic interpretation.
Authors
- Volker Straub (ORCID: https://orcid.org/0000-0001-9046-3540)
- Kristl G. Claeys (ORCID: https://orcid.org/0000-0001-9937-443X)
- Per Harald Jonson (ORCID: https://orcid.org/0000-0003-2423-359X)
- Ana Töpf (ORCID: https://orcid.org/0000-0002-9227-2526)
- Marco Savarese (ORCID: https://orcid.org/0000-0002-2591-244X)
- Bjarne Udd (ORCID: https://orcid.org/0000-0002-1101-9730)
- Veerle Goosens
- Anna Vihola (ORCID: https://orcid.org/0000-0001-9249-8480)
Institutions
- KU Leuven (BE)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-08-12
- DOI
- https://doi.org/10.1212/nxg.0000000000200185
- Citations
- 2
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.80