Clinical Case Reports (Mar 2023)

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

  • Nam‐Chung Tran,
  • Tuan Anh Nguyen,
  • Thanh Dat Ta,
  • Thinh Huy Tran,
  • Phuoc‐Dung Nguyen,
  • Chi Dung Vu,
  • Van‐Hung Nguyen,
  • The‐Hung Bui,
  • Thanh Van Ta,
  • Van Khanh Tran

DOI
https://doi.org/10.1002/ccr3.7025
Journal volume & issue
Vol. 11, no. 3
pp. n/a – n/a

Abstract

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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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