Associated Papers
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_S2__All_Scores_
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
Bardhan M et al.
Neurogenetics, 2022
Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.
Waite AJ et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Semplicini C et al.
Neurology, 2015
LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.
Bönnemann CG et al.
Neuromuscular Disorders : Nmd, 1998
Select a paper to view details