W29/L4

Question 1

What’s the inheritance pattern of BMD?

Answer 1

X-linked recessive

Question 2

What does BMD stand for?

Answer 2

Becker muscular dystrophy

Question 3

At what age is DMD usually diagnosed?

Answer 3

Early childhood - 2-6 years

Question 4

What area is often enlarged in DMD patients, and why?

Answer 4

The calves have a pseudohypertrophy of fat & CT

Question 5

Which gene is mutated in DMD & where is it?

Answer 5

Dystrophin gene

Xp21

Question 6

What role do we think the dystophin protein has in normal muscle?

Answer 6

Structural stabilisation of the sarcolemma in contraction

Evidence as a received and transduce of signals

Question 7

When does BMD usually present?

Answer 7

Adolescence or adulthood

Question 8

Which gene is affected in BMD, & where is it?

Answer 8

Dystrophin gene

Xp21

Question 9

DMD and BMD affect the same protein, why do they have different phenotypes?

Answer 9

DMD has a framshift mutation that reults in no dystrophin synthesis.

BMD has an in-frame mutation, that means that there’s just smaller dystrophin fragments produced