Biochem 89 Flashcards
1
Q
Duchenne M.D. is caused by what type of mutation?
A
X-linked frameshift in DMD gene (dystrophin)
2
Q
Becker M.D. is caused by what type of mutation?
A
X-linked POINT mutation in DMD gene
3
Q
How does Duchenne present?
A
- Weakness begins in pelvic girdle muscles and progresses superiorly.
- Pseudohypertrophy of calf muscles due to fibrofatty replacement
4
Q
What is the most common cause of death in Duchenne pts?
A
Dilated cardiomyopathy
5
Q
What is seen in Duchenne?
A
increased CPK and aldolase
6
Q
How does one confirm Duchenne?
A
Western blot and muscle biopsy
