Associated Papers
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Shimazaki R et al.
Orphanet Journal of Rare Diseases, 2025
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
Li C et al.
The Journal of Clinical Investigation, 2023
37317968 (PubMed )
Supplement: jci-133-168156-s148.xlsx › Table_S4__UKBB_
Underlying diseases in sporadic presentation of high creatine kinase levels in girls.
Lee T et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
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