Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis
Given the complex nature of FSHD, none of the current methods can independently provide a definitive diagnosis. As misdiagnosis may occur when relying on a single technique, we propose an integrated diagnostic approach, with SMOM as the first-line test.
Authors
- Moon‐Woo Seong (ORCID: https://orcid.org/0000-0003-2954-3677)
- Hobin Sung (ORCID: https://orcid.org/0009-0006-8338-0716)
- Jee‐Soo Lee (ORCID: https://orcid.org/0000-0002-6633-4631)
- Jung Ae Lee (ORCID: https://orcid.org/0000-0001-7286-3890)
- Sung Im Cho (ORCID: https://orcid.org/0000-0002-3819-8046)
- Joowon Jang (ORCID: https://orcid.org/0000-0003-4927-7222)
Institutions
- Cancer Research Institute (US)
- Seoul National University Hospital (KR)
- National University College (PR)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-04-15
- DOI
- https://doi.org/10.1136/jmg-2024-110382
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Research Foundation of Korea