Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder
We report a variant in the <i>SRD3A5</i> gene reported for the first time in a case of CDG. We are expanding the neurophenotypic spectrum by reporting proximal limb-girdle pattern of weakness combined with diffusely brisk reflexes and bilateral extensor plantar responses suggestive of corticospinal or neuromuscular axis involvement.
Authors
- Caroline Atef Tawfik (ORCID: https://orcid.org/0000-0001-5856-2135)
- Sahar Sabry (ORCID: https://orcid.org/0000-0003-0607-6842)
- Raghda Mohamed Hesham Zaitoun (ORCID: https://orcid.org/0000-0003-4434-000X)
- Nagham M. Elbagoury
- Mona Lofti Essawi
Institutions
- Ain Shams University (EG)
- National Research Centre (EG)
- He Eye Hospital (CN)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2026-02-10
- DOI
- https://doi.org/10.1080/13816810.2026.2623106
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00