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Targeted next‐generation sequencing determined a novel SGCG variant that is associated with limb‐girdle muscular dystrophy type 2C : A case report

  • Tran N
  • Nguyen T
  • Ta T
  • et al.
Clinical Case Reports (2023) 11(3)
DOI: 10.1002/ccr3.7025
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Abstract

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.

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Tran, N., Nguyen, T. A., Ta, T. D., Tran, T. H., Nguyen, P., Vu, C. D., … Tran, V. K. (2023). Targeted next‐generation sequencing determined a novel SGCG variant that is associated with limb‐girdle muscular dystrophy type 2C : A case report. Clinical Case Reports, 11(3). https://doi.org/10.1002/ccr3.7025

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