Dystrophin-Glycoprotein Complex

Which muscle type is not striated

Where is the DGC?

Where would you find Dystrophin

What is the structural relationship of dystroglycan alpha and beta

What is the function of sarcoglycans

How does disrupted DGC lead to cell death?

Name 2 molecules involved in DGC signalling

What condition does caveolin 3 mutation cause?

What type of cardiomyopathy does sarcoglycan mutation cause?

Name 4 types of cardiomyopathy

Which of these are features of HCM

Name 2 symptoms of HCM

Which of these are associated with HCM

What is the mode of inheritance for HCM

How would you diagnose HCM?

In which ventricles would you expect hypertrophy

Choose 2 other features of HCM

Which of these are genes that may cause HCM?

Describe the 4 cluster regions of MHY7

What are the consequences of MHY7 mutations

Name 3 symptoms of DCM

Does the heart enlarge in DCM

Which of these are co-morbidities for DCM

Which of these describes DCM

Which of these are DCM mutation genes?

Which of these describes dystrophin?

What is the most common site for dystrophin mutation?

What is the function of the NH2 domain in dystrophin

Which of these are true for the central rod domain of dystrophin

DMD is...

DMD is worse in..

Describe symptoms of DMD

Why is there elevated CK in DMD

What is a common cause of death in DMD

Why is BMD less severe than DMD

Which of these diagnosis years is true?

Which of these might be shown by BMD histology

Why is it important to monitor cardiac function regularly in BMD

Which drug may be prescribed to improve short term strength in BMD

Describe how DGC dysfunction is linked to MD

Is DCM seen in all MD

Which types of MD have highest rates of DCM

LG MD 2E is a mutation in a gene coding for...

Autosomal Dominant Emery Dreifuss MD cause?

What are lamins?

Is AD ED MD associated with DCM

What is a common cause of death in AD ED MD

What is the pathogenesis of AD ED MD