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

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
Published in:	Clinical case reports Vol. 11; no. 3; pp. e7025 - n/a
Main Authors:	Tran, Nam‐Chung, Nguyen, Tuan Anh, Ta, Thanh Dat, Tran, Thinh Huy, Nguyen, Phuoc‐Dung, Vu, Chi Dung, Nguyen, Van‐Hung, Bui, The‐Hung, Ta, Thanh Van, Tran, Van Khanh
Format:	Journal Article
Language:	English
Published:	England John Wiley & Sons, Inc 01-03-2023 John Wiley and Sons Inc Wiley
Subjects:	Biopsy Case Report Case reports Disease Families & family life Genes Kinases limb‐girdle muscular dystrophy type 2C Muscular dystrophy Mutation Patients Proteins sarcoglycanopathies SGCG variant targeted next‐generation sequencing Vietnam SGCG variant limb‐girdle muscular dystrophy type 2C sarcoglycanopathies targeted next‐generation sequencing
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Summary:	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.
Bibliography:	Nam‐Chung Tran and Tuan Anh Nguyen have contributed equally to this manuscript as co‐first author. ObjectType-Case Study-2 SourceType-Scholarly Journals-1 content type line 23 ObjectType-Report-1
ISSN:	2050-0904 2050-0904
DOI:	10.1002/ccr3.7025