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:10.1002/ccr3.7025

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

Clin Case Rep. 2023 Mar 27;11(3):e7025. doi: 10.1002/ccr3.7025. eCollection 2023 Mar.

Authors

Nam-Chung Tran^{1

2

3}, Tuan Anh Nguyen², Thanh Dat Ta¹, Thinh Huy Tran^{1

2}, Phuoc-Dung Nguyen¹, Chi Dung Vu⁴, Van-Hung Nguyen², The-Hung Bui^{1

5}, Thanh Van Ta^{1

2}, Van Khanh Tran¹

Affiliations

¹ Center for Gene and Protein Research Hanoi Medical University Hanoi Vietnam.
² Hanoi Medical University Hanoi Vietnam.
³ University of Medicine & Pharmacy Vietnam National University Hanoi Vietnam.
⁴ Department of Medical Genetics, Metabolism &Endocrinology Vietnam National Children's Hospital Hanoi Vietnam.
⁵ Center for Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet Karolinska University Hospital Stockholm Sweden.

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.

Keywords: SGCG variant; limb‐girdle muscular dystrophy type 2C; sarcoglycanopathies; targeted next‐generation sequencing.

Publication types

Case Reports