Cárdenas AM, González-Jamett AM, Cea LA, Bevilacqua JA, Caviedes P. Dysferlin function in skeletal muscle: possible pathological mechanisms and therapeutical targets in dysferlinopathies. Exp Neurol. 2016;283(Pt A):246–54.

Article  PubMed  Google Scholar 

Anwar S, Yokota T. The dysferlinopathies conundrum: clinical spectra, disease mechanism and genetic approaches for treatments. Biomolecules. 2024;14(3):256.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lek A, Evesson FJ, Sutton RB, North KN, Cooper ST. Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair. Traffic. 2012;13(2):185–94.

Article  CAS  PubMed  Google Scholar 

Bulankina AV, Thoms S. Functions of vertebrate ferlins. Cells. 2020;9(3):534.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Klinge L, Harris J, Sewry C, Charlton R, Anderson L, Laval S, Chiu YH, Hornsey M, Straub V, Barresi R, Lochmüller H, Bushby K. Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve. 2010;41(2):166–73.

Article  PubMed  Google Scholar 

Hofhuis J, Bersch K, Büssenschütt R, Drzymalski M, Liebetanz D, Nikolaev V, Wagner S, Maier LS, Gärtner J, Klinge L, Thoms S. Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. J Cell Sci. 2017;130(5):841–52.

Article  CAS  PubMed  Google Scholar 

Hofhuis J, Bersch K, Wagner S, Molina C, Fakuade FE, Iyer LM, Streckfuss-Bomeke K, Toischer K, Zelarayan LC, Voigt N, Nikolaev VO, Maier LS, Klinge L, Thoms S. Dysferlin links excitation-contraction coupling to structure and maintenance of the cardiac transverse-axial tubule system. Europace. 2020;22(7):1119–31.

Article  PubMed  Google Scholar 

Straub V, Murphy A, Udd B, LGMD Workshop Study Group. 229th ENMC international workshop: limb girdle muscular dystrophies - nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017. Neuromuscul Disord. 2018;28(8):702–10.

Article  PubMed  Google Scholar 

Amato AA, Brown RH Jr. Dysferlinopathies Handb Clin Neurol. 2011;101:111–8.

Article  PubMed  Google Scholar 

Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda Si, Rocha CT, Walter MC, Bushby K. For the Jain COSC. The clinical outcome study for dysferlinopathy: an international multicenter study. Neurol Genet. 2016;2(4):e89.

Article  PubMed  PubMed Central  Google Scholar 

Moore U, Gordish H, Diaz-Manera J, James MK, Mayhew AG, Guglieri M, Fernandez-Torron R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease. Neuromuscul Disord. 2021;31(4):265–80.

Article  PubMed  Google Scholar 

Terrill JR, Radley-Crabb HG, Iwasaki T, Lemckert FA, Arthur PG, Grounds MD. Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies. FEBS J. 2013;280(17):4149–64.

Article  CAS  PubMed  Google Scholar 

Grounds MD, Terrill JR, Radley-Crabb HG, Robertson T, Papadimitriou J, Spuler S, Shavlakadze T. Lipid accumulation in dysferlin-deficient muscles. Am J Pathol. 2014;184(6):1668–76.

Article  CAS  PubMed  Google Scholar 

Diaz-Manera J, Fernandez-Torron R, Llauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel J-Y, Stojkovic T, Takeda Si, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V. Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. J Neurol Neurosurg Psychiatry. 2018;89(10):1071–81.

Article  PubMed  Google Scholar 

Nagy N, Nonneman RJ, Llanga T, Dial CF, Riddick NV, Hampton T, Moy SS, Lehtimäki KK, Ahtoniemi T, Puoliväli J, Windish H, Albrecht D, Richard I, Hirsch ML. Hip region muscular dystrophy and emergence of motor deficits in dysferlin-deficient Bla/J mice. Physiol Rep. 2017;5(6):e13173.

Article  PubMed  PubMed Central  Google Scholar 

Demonbreun AR, Rossi AE, Alvarez MG, Swanson KE, Deveaux HK, Earley JU, Hadhazy M, Vohra R, Walter GA, Pytel P, McNally EM. Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity. Am J Pathol. 2014;184(1):248–59.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hogarth MW, Defour A, Lazarski C, Gallardo E, Manera JD, Partridge TA, Nagaraju K, Jaiswal JK. Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B. Nat Commun. 2019;10(1):2430.

Article  PubMed  PubMed Central  Google Scholar 

Defour A, Medikayala S, Van der Meulen JH, Hogarth MW, Holdreith N, Malatras A, Duddy W, Boehler J, Nagaraju K, Jaiswal JK. Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle. Hum Mol Genet. 2017;26(11):1979–91.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Agarwal AK, Tunison K, Mitsche MA, McDonald JG, Garg A. Insights into lipid accumulation in skeletal muscle in dysferlin-deficient mice. J Lipid Res. 2019;60(12):2057–73.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sellers SL, Milad N, White Z, Pascoe C, Chan R, Payne GW, Seow C, Rossi F, Seidman MA, Bernatchez P. Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B. J Lipid Res. 2018;59(2):261–72.

Article  CAS  PubMed  Google Scholar 

De Palma S, Morandi L, Mariani E, Begum S, Cerretelli P, Wait R, Gelfi C. Proteomic investigation of the molecular pathophysiology of dysferlinopathy. Proteomics. 2006;6(1):379–85.

Article  PubMed  Google Scholar 

Golding AE, Li W, Blank PS, Cologna SM, Zimmerberg J. Relative quantification of progressive changes in healthy and dysferlin-deficient mouse skeletal muscle proteomes. Muscle Nerve. 2023.

Xie Y, Li YH, Chen K, Zhu CY, Bai JY, Xiao F, Tan S, Zeng L. Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and validation. Front Neurol. 2022;13:998251.

Article  PubMed  PubMed Central  Google Scholar 

Cenacchi G, Fanin M, De Giorgi LB, Angelini C. Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. J Clin Pathol. 2005;58(2):190–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

van Putten M, Lloyd EM, de Greef JC, Raz V, Willmann R, Grounds MD. Mouse models for muscular dystrophies: an overview. Dis Model Mech. 2020;13(2):dmm043562.

Article  PubMed  PubMed Central  Google Scholar 

Haynes VR, Keenan SN, Bayliss J, Lloyd EM, Meikle PJ, Grounds MD, Watt MJ. Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice. J Lipid Res. 2019;60(8):1350–64.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tidball JG, Welc SS, Wehling-Henricks M. Immunobiology of inherited muscular dystrophies. Compr Physiol. 2018;8(4):1313–56.

Article  PubMed  PubMed Central  Google Scholar 

Hoffman EP, Rao D, Pachman LM. Clarifying the boundaries between the inflammatory and dystrophic myopathies: insights from molecular diagnostics and microarrays. Rheum Dis Clin N Am. 2002;28(4):743–57.

Article  Google Scholar 

Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Db Syst Rev. 2008;2:CD003725.

Google Scholar 

Moxley RT, Pandya S, Ciafaloni E, Fox DJ, Campbell K. Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management. J Child Neurol. 2010;25(9):1116–29.