<scp> <i>PDXK</i> </scp> ‐Related Neuropathy: A Case With a Novel Splice‐Altering Missense Variant and Literature Review
Here we report a novel splice-altering missense variant in PDXK that induces aberrant transcript degradation, revealing a new disease mechanism for PDXK-related neuropathy.
Authors
- Kristina Mikhalchuk (ORCID: https://orcid.org/0000-0002-0394-7801)
- Aysylu F. Murtazina (ORCID: https://orcid.org/0000-0001-7023-7378)
- Artem O. Borovikov (ORCID: https://orcid.org/0000-0001-5871-8005)
- Mikhail Skoblov (ORCID: https://orcid.org/0000-0002-7293-3438)
- V. V. Kadyshev
- Elena Dadali (ORCID: https://orcid.org/0000-0001-5602-2805)
- Daria Akimova
- Dmitrii Subbotin
Institutions
- Research Centre for Medical Genetics (RU)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2026-03-26
- DOI
- https://doi.org/10.1002/mgg3.70210
- Primary Topic
- Cell death mechanisms and regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00