P1: Immunolabelling for dystrophin

Question 1

Duchenne Muscular Dystrophy (Description, monitoring progression, prevalence, cause)

Answer 1

• Characterised by rapid progression of muscle degeneration and a significant reduction life expectancy
• Grip dynamometer used to monitor progression and effectiveness of treatment strategies
• 1 in 4000 males
• Caused by recessive mutation in Dystrophin gene on X Chr.
• Dystrophin has key role in muscle and interacts directly w/ actin filaments