A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability
This study expanded the spectrum of genotype and phenotype of NEM8, and emphasized that molecular genetic tests are highly valuable in diagnosis of patients with inconclusive muscle biopsy results.
Authors
- Katherine R. Schon (ORCID: https://orcid.org/0000-0001-8054-8954)
- Uluç Yiş
- Mehmet Kocabey (ORCID: https://orcid.org/0000-0001-9565-6907)
- Rita Horváth (ORCID: https://orcid.org/0000-0002-9841-170X)
- Ahmet Okay Çağlayan (ORCID: https://orcid.org/0000-0002-2332-322X)
- Ayşe Polat (ORCID: https://orcid.org/0000-0002-1856-4387)
- Semra Gürsoy (ORCID: https://orcid.org/0000-0002-6795-3012)
- Pakize Karaoğlu (ORCID: https://orcid.org/0000-0003-2014-8822)
- Özlem Giray Bozkaya (ORCID: https://orcid.org/0000-0003-1455-308X)
- Ayfer Ülgenalp (ORCID: https://orcid.org/0000-0002-9969-203X)
- Beria Sönmez
Institutions
- Izmir University (TR)
- Dokuz Eylül University (TR)
- University of Cambridge (GB)
- Dr. Behçet Uz Çocuk Hastalıkları Hastanesi (TR)
- Sağlık Bilimleri Üniversitesi (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-08-13
- DOI
- https://doi.org/10.1159/000540325
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00