Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy
Current results further underscore the important role of chromosomal inversions as causal in a subset of DMD patients who remain without a molecular diagnosis after routine testing. It also demonstrates the utility of OGM in providing detailed, gene-level insights into cytogenetic abnormalities observed in the diagnostics of neuromuscular disorders.
Authors
- Pirjo Isohanni (ORCID: https://orcid.org/0000-0002-0156-1614)
- Katri Pylkäs (ORCID: https://orcid.org/0000-0002-2449-0521)
- Anna H. Hakonen (ORCID: https://orcid.org/0000-0001-7533-7124)
- Anna‐Kaisa Anttonen (ORCID: https://orcid.org/0000-0002-9749-7767)
- Sonja Strang‐Karlsson (ORCID: https://orcid.org/0000-0002-8594-2077)
- Minna Tikkanen (ORCID: https://orcid.org/0000-0001-5493-8588)
- Leena Huhti
- Tuomo Mantere (ORCID: https://orcid.org/0000-0003-3284-4403)
- Tuuni Turtinen
Institutions
- University of Helsinki (FI)
- Seinäjoki University of Applied Sciences (FI)
- Helsinki University Hospital (FI)
- Helsinki Children's Hospital (FI)
- Fimlab (Finland) (FI)
- Hospital District of Helsinki and Uusimaa (FI)
- University of Oulu (FI)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2025-12-07
- DOI
- https://doi.org/10.1186/s13039-025-00743-2
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00