1.
Clin Case Rep
; 11(3): e7025, 2023 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36992678
RESUMO
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.