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

Clinical case reports（2023）

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摘要

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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关键词

limb-girdle muscular dystrophy type 2C,sarcoglycanopathies,SGCG variant,targeted next-generation sequencing

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