Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis
This is the first report of the <i>ANO5</i>:c.1770_1773del variant in the literature. This report highlights the spectrum of <i>ANO5</i> muscle disease and describes the role of quad-joint WGS in the early diagnosis and preventive clinical management of <i>ANO5</i> muscle disease.
Authors
- Arezou A. Ghazani (ORCID: https://orcid.org/0000-0002-4439-8554)
- Connor P. Hayes (ORCID: https://orcid.org/0000-0001-7857-8652)
- Busra Unal (ORCID: https://orcid.org/0000-0002-2056-2604)
- Mario Ćuk (ORCID: https://orcid.org/0000-0002-7119-133X)
- Maja Prutki (ORCID: https://orcid.org/0000-0002-2409-801X)
- Luka Lovrenčić (ORCID: https://orcid.org/0000-0002-3132-6930)
- Goran Krakar
- Feruza Abraamyan
- McKenzie Walker
- Lidija Srkoč-Majčica
Institutions
- Brigham and Women's Hospital (US)
- Harvard University (US)
- University Hospital Centre Zagreb (HR)
- University of Zagreb (HR)
- Zabok General Hospital (HR)
Publication Details
- Journal
- Genes
- Published
- 2024-10-06
- DOI
- https://doi.org/10.3390/genes15101300
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00