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-Reference-Cited by-同舟云学术

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

Published:2023-03 Issue:3 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Tran Nam‐Chung¹²³^ORCID,Nguyen Tuan Anh²,Ta Thanh Dat¹^ORCID,Tran Thinh Huy¹²,Nguyen Phuoc‐Dung¹,Vu Chi Dung⁴,Nguyen Van‐Hung²,Bui The‐Hung¹⁵,Ta Thanh Van¹²,Tran Van Khanh¹^ORCID

Affiliation:

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

AbstractLimb‐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.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7025

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