[재활의학과] muscular dystrophy

목차

1. Dystrophinopathies
2. Facioscapulohumeral Muscular Dystrophy
3. Rehabilitation of individuals with myopathies

본문내용

Dystrophinopathies
X linked recessive disease: mutation of dystrophin gene (Xp21.2)

Dystrophin protein
Function
- Plasma membrane stabilizerĺ prevent fiber damage from mechanical stress associated with mechanical contraction
- Expressed in central nervous system, peripheral nerves, cardiac muscle, smooth muscle
- Lack of dystrophin protein ĺ skeletal muscle may have membrane rupture, cellular damage, fiber necrosis

참고 자료

Gelfius, C. (2016). Myopathy. In Cifu, D. X. (Ed.). Braddom’s Physcial Medicine and Rehabilitation 5
th edition (943-959). Philadelphia, PA : Elsevier