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Bethlem Myopathy Type 1
Bethlem Myopathy 1

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]

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