Targeted next-generation sequencing determined a novel SGCG variant that is associated with limb-girdle muscular dystrophy type 2C: A case report.
Nam-Chung TranTuan Anh NguyenThanh Dat TaThinh Huy TranPhuoc-Dung NguyenChi Dung VuVan-Hung NguyenThe-Hung BuiThanh Van TaVan-Khanh TranPublished in: Clinical case reports (2023)
Limb-girdle muscular dystrophy-type 2C (LGMD2C) is caused by mutations in the SGCG gene. Here, we report a case of a 26-year-old male who had inactive walking due to proximal muscle weakness. Targeted next-generation sequencing found a novel variant c.412C > T (Q138*) in the SGCG gene.