Presentation
Some dermatological symptoms are present as follicular hyperkeratosis and tendency to form adherence in scars. [pepsic.bvsalud.org]
Treatment
Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]
Its treatment is based on motor and aquatic physiotherapy once a week, occupational therapy also once a week and supraloral orthosis associated with extensor splint alternately, but it is difficult to adhere. [pepsic.bvsalud.org]
Pathophysiology
Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]
Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. Journal of Proteome Research, v. 13, n. 11, p. 5022-5030, Sept. 2014. doi: 10.1021/pr500675e [ Links ] PARK, Y. et al. [pepsic.bvsalud.org]