article · Ophthalmic Genetics
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.
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DOI: 10.1080/13816810.2026.2623106
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