PHYSCI 121 Lecture Notes - Lecture 32: Muscular Dystrophy, Dystroglycan, Glycosylation
Document Summary
Second lecture: what can we learn from individual patients and their manifestations. All diseases of muscles are not just muscular dystrophy. It is more common to have an individual that is affected without a family disease. Not really a perfect form of classification for patients, but its all they have. Limb girdle muscular dystrophies (30+ types) (early weakness of muscle in shoulders and hips) We have to have a way to organize list when in front of the patient. Muscular dystrophies due to disorder of membrane structure/stability or repair. The ck leaks out and bad substances leak in and the muscle is injured. For normal people, there is a constant balance of injury and repair. Clinically heterogeneous group of muscular dystrophies that result from hypoglycosylation of a- dystroglycan. Glycosylation: post-translational modification that is required for normal function of certain proteins, associated with the er and golgi. Different types of glycosylation depending on the linkage.
