Associated Papers
Structure and assembly of the dystrophin glycoprotein complex.
Wan L et al.
Nature, 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_S2__All_Scores_
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
31832098 (PubMed )
Supplement: 13039_2019_459_MOESM4_ESM.xlsx › Sheet1
Clinical aspects of patients with sarcoglycanopathies under steroids therapy.
Albuquerque MA et al.
Arquivos De Neuro-psiquiatria, 2014
Pathology and diagnosis of muscular dystrophies.
Navarro C et al.
Advances in Experimental Medicine and Biology, 2009
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
Bönnemann CG et al.
Human Molecular Genetics, 1996
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