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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10041365/
https://www.ncbi.nlm.nih.gov/pubmed/36992678
http://dx.doi.org/10.1002/ccr3.7025
Descripción
Sumario: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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