Associated Papers
Structure and assembly of the dystrophin glycoprotein complex.
Wan L et al.
Nature, 2025
Efficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy-Assessment of Patient's Primary Myotubes.
Scano M et al.
International Journal of Molecular Sciences, 2024
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M et al.
Gene, 2024
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_S5__Clinical_Severity_
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies.
Bönnemann CG et al.
Seminars in Pediatric Neurology, 2002
LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.
Bönnemann CG et al.
Neuromuscular Disorders : Nmd, 1998
Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online.
dos Santos MR et al.
Human Mutation, 1998
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