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Li, V. DYSF Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5226 (accessed on 22 September 2026).
Li V. DYSF Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5226. Accessed September 22, 2026.
Li, Vivi. "DYSF Gene" Encyclopedia, https://encyclopedia.pub/entry/5226 (accessed September 22, 2026).
Li, V. (2020, December 24). DYSF Gene. In Encyclopedia. https://encyclopedia.pub/entry/5226
Li, Vivi. "DYSF Gene." Encyclopedia. Web. 24 December, 2020.
DYSF Gene
Edit

Dysferlin: The DYSF gene provides instructions for making a protein called dysferlin. 

genes

References

  1. Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in musculardystrophy. Trends Cell Biol. 2004 Apr;14(4):206-13. Review.
  2. Broglio L, Tentorio M, Cotelli MS, Mancuso M, Vielmi V, Gregorelli V, PadovaniA, Filosto M. Limb-girdle muscular dystrophy-associated protein diseases.Neurologist. 2010 Nov;16(6):340-52. doi: 10.1097/NRL.0b013e3181d35b39. Review.
  3. 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 Jun1;18(11):1976-89. doi: 10.1093/hmg/ddp121.
  4. Glover L, Brown RH Jr. Dysferlin in membrane trafficking and patch repair.Traffic. 2007 Jul;8(7):785-94.
  5. Han R, Campbell KP. Dysferlin and muscle membrane repair. Curr Opin Cell Biol.2007 Aug;19(4):409-16.
  6. 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 patientsaffected by dysferlin deficient muscular dystrophy. J Neurol NeurosurgPsychiatry. 2010 Sep;81(9):946-53. doi: 10.1136/jnnp.2009.178038.
  7. Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-BrangerD, 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 mutationalspectrum in a large cohort of patients. Hum Mutat. 2009 Feb;30(2):E345-75. doi:10.1002/humu.20910.
  8. Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA,Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B.Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol. 2007 Aug;64(8):1176-82.
  9. 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 dysferlinopathyphenotypes based on clinical findings and muscle imaging studies. Neurology. 2010Jul 27;75(4):316-23. doi: 10.1212/WNL.0b013e3181ea1564.
  10. Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. SeminPediatr Neurol. 2006 Jun;13(2):104-14. Review.
  11. Takahashi T, Aoki M, Tateyama M, Kondo E, Mizuno T, Onodera Y, Takano R, KawaiH, Kamakura K, Mochizuki H, Shizuka-Ikeda M, Nakagawa M, Yoshida Y, Akanuma J,Hoshino K, Saito H, Nishizawa M, Kato S, Saito K, Miyachi T, Yamashita H, KawaiM, Matsumura T, Kuzuhara S, Ibi T, Sahashi K, Nakai H, Kohnosu T, Nonaka I,Arahata K, Brown RH Jr, Saito H, Itoyama Y. Dysferlin mutations in JapaneseMiyoshi myopathy: relationship to phenotype. Neurology. 2003 Jun10;60(11):1799-804.
  12. Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N.Dysferlinopathies. Neurol India. 2008 Jul-Sep;56(3):289-97. Review.
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