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

被引：2

作者：

Tran, Nam-Chung ^{[1
,2
,3
]}

Nguyen, Tuan Anh ^{[2
]}

Ta, Thanh Dat ^{[1
]}

Tran, Thinh Huy ^{[1
,2
]}

Nguyen, Phuoc-Dung ^{[1
]}

Vu, Chi Dung ^{[4
]}

Nguyen, Van-Hung ^{[2
]}

Bui, The-Hung ^{[1
,5
]}

Ta, Thanh Van ^{[1
,2
]}

Tran, Van Khanh ^{[1
,6
]}

机构：

[1] Hanoi Med Univ, Ctr Gene & Prot Res, Hanoi, Vietnam

[2] Hanoi Med Univ, Hanoi, Vietnam

[3] Vietnam Natl Univ, Univ Med & Pharm, Hanoi, Vietnam

[4] Vietnam Natl Childrens Hosp, Dept Med Genet Metab & Endocrinol, Hanoi, Vietnam

[5] Karolinska Inst, Karolinska Univ Hosp, Ctr Mol Med, Clin Genet Unit, Stockholm, Sweden

[6] Hanoi Med Univ, Ctr Gene & Prot Res, 1st Ton Tung St, Hanoi 10000, Vietnam

来源：

CLINICAL CASE REPORTS | 2023年 / 11卷 / 03期

关键词：

limb-girdle muscular dystrophy type 2C; sarcoglycanopathies; SGCG variant; targeted next-generation sequencing; MUSCLE; DIAGNOSIS;

D O I：

10.1002/ccr3.7025

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

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.

引用

页数：6

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