Iram Javed

Biomarker-Guided Diagnosis of Riboflavin Transporter Deficiency Presenting as Seronegative Myasthenia Gravis: A Short Report from a Consanguineous Family

Background: Brown–Vialetto–Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder caused by riboflavin transporter gene variants (SLC52A2, SLC52A3). Early symptoms can mimic neuromuscular junction disorders, causing diagnostic delays. Case Presentation: A 3.5-...