Disease: Limb-girdle muscular dystrophy- type 2E
- A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping
- Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the <em>SGCB</em> Gene
- Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
- Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients
- Clinical Determinants of Disease Progression in Patients With Beta-Sarcoglycan Gene Mutations
- Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E
- Contraction-Induced Loss of Plasmalemmal Electrophysiological Function Is Dependent on the Dystrophin Glycoprotein Complex
- Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E
- Dysferlin protein analysis in limb-girdle muscular dystrophies
- Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse
- Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients
- Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results
- Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
- Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures
- Immunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies
- Intramyocardial Fat in Family With Limb-Girdle Muscular Dystrophy Type 2E Cardiomyopathy and Sudden Cardiac Death
- LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3
- LGMD2E is the most common type of sarcoglycanopathies in the Iranian population
- Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene
- Morphological and functional analyses of skeletal muscles from an immunodeficient animal model of limb-girdle muscular dystrophy type 2E
- Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E
- Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study
- Sarcoglycanopathies
- Sarcoglycanopathies: an update
- Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene
- Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice
- Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice
- Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort
- Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D
- Xanthine oxidase is hyper-active in Duchenne muscular dystrophy
- β-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice