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References

These sources were used to develop the Genetics Home Reference gene summary on the DYSF gene.

Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol. 2004 Apr;14(4):206-13. Review. PubMed citation
Broglio L, Tentorio M, Cotelli MS, Mancuso M, Vielmi V, Gregorelli V, Padovani A, Filosto M. Limb-girdle muscular dystrophy-associated protein diseases. Neurologist. 2010 Nov;16(6):340-52. doi: 10.1097/NRL.0b013e3181d35b39. Review. PubMed citation
Chiu YH, Hornsey MA, Klinge L, Jørgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmüller H, Bushby K. Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet. 2009 Jun 1;18(11):1976-89. doi: 10.1093/hmg/ddp121. Epub 2009 Mar 13. PubMed citation
Entrez Gene
Glover L, Brown RH Jr. Dysferlin in membrane trafficking and patch repair. Traffic. 2007 Jul;8(7):785-94. Epub 2007 Jun 5. Review. PubMed citation
Guglieri M, Straub V, Bushby K, Lochmüller H. Limb-girdle muscular dystrophies. Curr Opin Neurol. 2008 Oct;21(5):576-84. doi: 10.1097/WCO.0b013e32830efdc2. Review. PubMed citation
Han R, Campbell KP. Dysferlin and muscle membrane repair. Curr Opin Cell Biol. 2007 Aug;19(4):409-16. Epub 2007 Jul 26. Review. PubMed citation
Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmüller H, Bushby K. New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):946-53. doi: 10.1136/jnnp.2009.178038. Epub 2009 Jun 14. PubMed citation
Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N. Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat. 2009 Feb;30(2):E345-75. doi: 10.1002/humu.20910. PubMed citation
OMIM: DYSFERLIN
Paradas C, Llauger J, Diaz-Manera J, Rojas-García R, De Luna N, Iturriaga C, Márquez C, Usón M, Hankiewicz K, Gallardo E, Illa I. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology. 2010 Jul 27;75(4):316-23. doi: 10.1212/WNL.0b013e3181ea1564. Epub 2010 Jun 23. PubMed citation
Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore SA, Bähring S, Wenzel K, Vinkemeier U, Rocken C. Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol. 2008 Mar;63(3):323-8. doi: 10.1002/ana.21309. PubMed citation
Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2006 Jun;13(2):104-14. Review. PubMed citation
Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N. Dysferlinopathies. Neurol India. 2008 Jul-Sep;56(3):289-97. Review. PubMed citation
Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol. 2005 Aug;62(8):1256-9. PubMed citation


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