X-ROS signaling is a novel redox signaling pathway that links mechanical stress to changes
in [Ca2+] i. This pathway is activated rapidly and locally within a muscle cell under …

Mutations in the dysferlin gene result in the development of a range of early adult-onset,
progressive muscular dystrophies, collectively known as the dysferlinopathies. There is …

Dysferlinopathies, most commonly limb girdle muscular dystrophy 2B and Miyoshi
myopathy, are degenerative myopathies caused by mutations in the DYSF gene encoding …

Absence of, or loss-of-function mutations in the dysferlin gene (dysf) result in
dysferlinopathy, characterized by increased muscle inflammation, collagen deposition and …

Mutations in dysferlin and anoctamin 5 are the cause of muscular disorders, with the main
presentations as limb-girdle muscular dystrophy or Miyoshi type of distal myopathy. Both …

The protein dysferlin is abundantly expressed in skeletal and cardiac muscles, where its
main function is membrane repair. Mutations in the dysferlin gene are involved in two …

La disferlina es una proteína que se expresa en el músculo esquelético humano. Aunque su
función no se conoce completamente, se sabe que participa en la reparación de la …