1. Discovery of β-Sarcoglycan Deficiency in LGMD2E (1995)
Bönnemann CG, Modi R, Noguchi S, et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995 Nov; 11(3):266–73.
PMID: 7581449 →
2. Phase 1/2 Clinical Trial of Bidridistrogene Xeboparvovec / SRP-9003 (2024)
Mendell JR, Pozsgai ER, Lewis S, et al. Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results. Nat Med 2024 Jan; 30(1):199–206.
PMID: 38177855 →
3. Deep Mutational Scanning of All 6,340 SGCB Coding Variants (2023)
Li C, Wilborn J, Pittman S, Daw J, Alonso-Perez J, Diaz-Manera J, Weihl CC, Haller G. Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E. J Clin Invest 2023 Jun 15; 133(12):e168156.
PMID: 37317968 →
4. CFTR Corrector C17 in β-Sarcoglycanopathy Primary Patient Myotubes (2024)
Scano M, Benetollo A, Dalla Barba F, Sandonà D, et al. Efficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy—Assessment of Patient's Primary Myotubes. Int J Mol Sci 2024 Dec 11; 25(24):13336.
PMID: 39769077 →
5. ER Quality Control & Mannosidase I Inhibition of Sarcoglycan Mutants (2012)
Soheili T, Gicquel E, Poupiot J, et al. Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. Hum Mutat 2012 Feb; 33(2):429–39.
PMID: 22095924 →
6. Clinical & Genetic Spectrum in LGMD2E / R4 (2015)
Semplicini C, Vissing J, Krahn M, et al. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. Neurology 2015 Apr 28; 84(17):1772–81.
PMID: 25862795 →
7. Revised Mutation Spectrum in Sarcoglycanopathies (2008)
Trabelsi M, Kavian N, Daoud F, et al. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet 2008 Jul; 16(7):793–803.
PMID: 18285821 →
8. Assembly Hierarchy of the Sarcoglycan Complex (1998)
Chan YM, Bönnemann CG, Lidov HG, Kunkel LM. Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol 1998 Dec 28; 143(7):2033–44.
PMID: 9864373 →
9. Systemic AAV β-Sarcoglycan Delivery in LGMD2E Mice (2017)
Pozsgai ER, Griffin DA, Heller KN, Mendell JR, Rodino-Klapac LR. Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice. Mol Ther 2017 Apr 5; 25(4):855–69.
PMID: 28284983 →
10. Base Editing Repairs Sarcoglycan Mutation in Human Muscle Stem Cells (2021)
Escobar H, Krause A, Keiper S, et al. Base editing repairs an SGCA mutation in human primary muscle stem cells. JCI Insight 2021 May 24; 6(10):e145994.
PMID: 33848270 →
11. GRASP-LGMD Consortium Clinical Endpoints Study (2024)
Doody A, Alfano L, Diaz-Manera J, et al. Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study. BMC Neurol 2024 Mar 15; 24(1):96.
PMID: 38491364 →
12. Copolymer Membrane Stabilizers in Muscular Dystrophy (2018)
Houang EM, Sham YY, Bates FS, Metzger JM. Muscle membrane integrity in Duchenne muscular dystrophy: recent advances in copolymer-based muscle membrane stabilizers. Skelet Muscle 2018 Oct 10; 8(1):31.
PMID: 30305165 →
13. NBD Peptide NF-κB Blockade & Calpastatin in Dystrophic Muscle
Peterson JM, Kline W, Canan BD, et al. Peptide-based inhibition of NF-κB rescues diaphragm muscle contractile dysfunction in a murine model of Duchenne muscular dystrophy.
Mol Med 2011; 17(5-6):508–15 (
PMID: 21267511). See also Spencer MJ, Mellgren RL.
Hum Mol Genet 2002; 11(21):2645–55 (
PMID: 12354790).
14. Cardiolipin Protection via SS-31 (2014) & ACMG Standards (2015)
Szeto HH. First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics.
Br J Pharmacol 2014 Apr; 171(8):2029–50 (
PMID: 24117165). Variant classification: Richards S, et al.
Genet Med 2015; 17(5):405–24 (
PMID: 25741868).