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Diagnosis of Dysferlinopathies

Author

Listed:
  • Fernández-Simón E
  • Diaz-Manera J
  • Gallardo E
  • De Luna N

    (Neuromuscular Diseases Laboratory, Universitat Autonoma de Barcelona, Spain)

Abstract

Dysferlinopathies are autosomal, recessive allelic muscle disorders produced by mutations in the dysferlin gene (DYSF) [1]. The disease has different phenotypes including limb girdle 2B, Miyoshi myopathy or distal anterior compartment myopathy among others [2]. Dysferlin is located at the membrane of the muscle fiber and its main function is related with membrane repair after damage. However, dysferlin has also been involved in other processes including intracellular signaling or myoblast differentiation. Dysferlin is expressed in other tissues such as monocytes, heart, kidney and placenta where its function is not completely known [3,4].

Suggested Citation

  • Fernández-Simón E & Diaz-Manera J & Gallardo E & De Luna N, 2019. "Diagnosis of Dysferlinopathies," Open Access Journal of Neurology & Neurosurgery, Juniper Publishers Inc., vol. 10(4), pages 76-77, April.
    • Handle: RePEc:adp:joajnn:v:10:y:2019:i:4:p:76-77
    DOI: 10.19080/OAJNN.2019.10.555794
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