Novel <i>GNB4</i> Gene Variant and the Spectrum of <i>GNB4</i> Variants in Patients With Charcot-Marie-Tooth Disease
We reinterpreted the 8 previously reported GNB4 gene variants in the literature from 10 unrelated families in addition to the novel variant reported in this study in patients with hereditary neuropathy. We show that GNB4-associated neuropathy is associated with mixed axonal and demyelinating features presenting with usually symmetric lower limb motor weakness and sensory loss and/or upper limb weakness and sensory loss.
Authors
- Dmitrijs Rots (ORCID: https://orcid.org/0000-0002-4890-9147)
- Marija Rozevska
- Agnese Zariņa (ORCID: https://orcid.org/0000-0002-0242-5796)
- Linda Gailīte (ORCID: https://orcid.org/0000-0002-7219-1294)
- Gundega Ķauķe (ORCID: https://orcid.org/0000-0003-4333-6682)
- Marija Jurčenko (ORCID: https://orcid.org/0000-0001-8372-7245)
- Viktorija Ķēniņa (ORCID: https://orcid.org/0000-0002-7468-1908)
- Dace Pretkalnina (ORCID: https://orcid.org/0000-0002-7948-1825)
Institutions
- Erasmus MC (NL)
- Pauls Stradiņš Clinical University Hospital (LV)
- Children's Clinical University Hospital (LV)
- Riga Stradiņš University (LV)
- ERN GUARD-Heart (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-10-27
- DOI
- https://doi.org/10.1212/nxg.0000000000200310
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00