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

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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Wiley 2023-03-01
Series:Clinical Case Reports
Subjects:
limb‐girdle muscular dystrophy type 2C
sarcoglycanopathies
SGCG variant
targeted next‐generation sequencing
Online Access:https://doi.org/10.1002/ccr3.7025

Internet

https://doi.org/10.1002/ccr3.7025

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