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URL of this page: https://medlineplus.gov/genetics/gene/dysf/

DYSF gene

dysferlin

Normal Function

The DYSF gene provides instructions for making a protein called dysferlin. This protein is found in the thin membrane that surrounds muscle fibers, which is called the sarcolemma. Dysferlin is thought to play an important role in repairing the sarcolemma when it becomes damaged due to muscle strain. Researchers suggest that dysferlin may also be involved in transporting materials within muscle fibers. Dysferlin may also work together with calcium to regulate cell signaling pathways.

Health Conditions Related to Genetic Changes

Limb-girdle muscular dystrophy

Variants (also called mutations) in the DYSF gene can cause a type of limb-girdle muscular dystrophy called LGMD R2. Limb-girdle muscular dystrophy is characterized by weakness (myopathy) and wasting (atrophy) of the muscles that are close to the center of the body (proximal muscles), such as the muscles of the shoulders, hips, thighs, and upper arms.

The DYSF gene variants that lead to limb-girdle muscular dystrophy cause cells to produce a version of the protein that does not function properly. The altered protein interferes with muscle repair, which likely leads to the myopathy and atrophy seen in people with LGMD R2.

More About This Health Condition

Miyoshi myopathy

Variants in the DYSF gene can also cause Miyoshi myopathy, a muscle disorder that is characterized by myopathy and atrophy of the muscles that are away from the center of the body (distal muscles), particularly those in the lower legs. Many of the DYSF gene variants that are associated with Miyoshi myopathy lead to the substitution of one protein building block (amino acid) for another in the dysferlin protein. The altered protein does not function properly, which interferes with the cell's ability to repair damage to the sarcolemma. This impairs muscle function and leads to the myopathy and atrophy seen in people with Miyoshi myopathy. Recently, researchers have suggested that LGMD R2 and Miyoshi myopathy are not distinct disorders but are part of the same disease spectrum..

More About This Health Condition

Other disorders

DYSF gene variants also cause a condition called distal myopathy with anterior tibial onset. This condition is characterized by myopathy that is most apparent in the muscles of the lower legs. The first muscle affected is typically the tibialis anterior, which is located at the front of the lower leg and helps to flex the foot. The myopathy associated with this condition worsens over time.

Muscle problems caused by changes in the DYSF gene are called dysferlinopathies. Some researchers have proposed that the conditions caused by variants in the DYSF gene are not separate disorders but are actually one disorder. These researchers believe that the term "dysferlinopathy" should be used to refer to all of the disorders that are caused by variants in the DYSF gene.

Other Names for This Gene

  • FER1L1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Aoki M, Takahashi T. Dysferlinopathy. 2004 Feb 5 [updated 2021 May 27]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1303/ Citation on PubMed
  • Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol. 2004 Apr;14(4):206-13. doi: 10.1016/j.tcb.2004.03.001. Citation on PubMed
  • 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. Citation on PubMed
  • Chiu YH, Hornsey MA, Klinge L, Jorgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmuller 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. Citation on PubMed or Free article on PubMed Central
  • Glover L, Brown RH Jr. Dysferlin in membrane trafficking and patch repair. Traffic. 2007 Jul;8(7):785-94. doi: 10.1111/j.1600-0854.2007.00573.x. Epub 2007 Jun 5. Citation on PubMed
  • Han R, Campbell KP. Dysferlin and muscle membrane repair. Curr Opin Cell Biol. 2007 Aug;19(4):409-16. doi: 10.1016/j.ceb.2007.07.001. Epub 2007 Jul 26. Citation on PubMed or Free article on PubMed Central
  • Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmuller 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. Citation on PubMed or Free article on PubMed Central
  • Krahn M, Beroud 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, Laforet P, Urtizberea JA, Eymard B, Leturcq F, Levy 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. Citation on PubMed
  • 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; Jain COS Consortium. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease. Neuromuscul Disord. 2021 Apr;31(4):265-280. doi: 10.1016/j.nmd.2021.01.009. Epub 2021 Jan 21. Citation on PubMed
  • Nguyen K, Bassez G, Krahn M, Bernard R, Laforet P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Levy 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. doi: 10.1001/archneur.64.8.1176. Citation on PubMed
  • Paradas C, Llauger J, Diaz-Manera J, Rojas-Garcia R, De Luna N, Iturriaga C, Marquez C, Uson 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. Citation on PubMed
  • Poudel BH, Fletcher S, Wilton SD, Aung-Htut M. Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities. Int J Mol Sci. 2024 May 21;25(11):5572. doi: 10.3390/ijms25115572. Citation on PubMed
  • Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2006 Jun;13(2):104-14. doi: 10.1016/j.spen.2006.06.006. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.