Myofibrillar Flashcards
1
Q
What mutations are common in myofibrillar myopathy
A
Desmin Myotilin FHL1 FLNC BAG3 CRYAB LDB3
2
Q
What is the inheritance of myofibrillar myopathy?
A
AD except FHL1 is X-linked
3
Q
Cardiac involvement is common in which mutations with myofibrillar myopathy?
A
DES
FLNC
FHL1
BAG3
4
Q
Peripheral neuropathy is common with which myofibrillar myopathy mutation?
A
BAG3
5
Q
Cataracts common with which myofibrillar myopathy mutation?
A
CRYAB
6
Q
What is defining feature of myofibrillar myopathy on biopsy?
A
Sarcoplasmic inclusions in background of chronic myopathy.
