Targeted next‐generation sequencing determined a novel <i>SGCG</i> variant that is associated with limb‐girdle muscular dystrophy type <scp>2C</scp>: A case report
Journal: Clinical Case Reports
Year: 2023

Limb-girdle muscular dystrophy-type 2C (LGMD2C) is caused by mutations in the <i>SGCG</i> 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 <i>SGCG</i> gene.