Myopathies

Question 1

X-Linked Dystrophy

Answer 1

1. DMD
2. Emery Dreifuss Dystrophy
3. Scapulohumeral Dystrophy

Question 2

Defect of DMD

Answer 2

Dystrophin

Question 3

Defect of Emery Dreifuss Dystrophy

Answer 3

Emerin

Question 4

Defect of Scapulohumeral Dystorphy

Answer 4

FHL 1

Question 5

AD Limb Girdle Muscular Dystrophy

Answer 5

LGMD 1A-1E

Question 6

Mutation of LGMD 1A

Answer 6

Myotilin

Question 7

Mutation of LGMD 1B

Answer 7

Laminin A/C

Question 8

Mutation of LGMD 1C

Answer 8

Caveolin-3

Question 9

Mutation of LGMD 1D

Answer 9

6P

Question 10

Mutation of LGMD 1E

Answer 10

Desmin

Question 11

Only distal weakness LGMD

Answer 11

LGMD 1A

Question 12

Early onset LGMD

Answer 12

LGMD 1B 1C 1E

Question 13

Late onset LGMD

Answer 13

LGMD 1D and 1A

Question 14

AD LGMD with Highest CK

Answer 14

LGMD 1C

Question 15

AR LGMD

Answer 15

LGMD 2A-2M

Question 16

Mutation of LGMD 2A

Answer 16

CALPAIN

Question 17

Mutation of LGMD 2B

Answer 17

DYSFERLIN

Question 18

Mutation of LGMD 2C-2F

Answer 18

B-Y SARCOGLYCAN

Question 19

Mutation of LGMD 2G

Answer 19

TELETHRIN

Question 20

Mutation of LGMD 2H

Answer 20

TRIM32

Question 21

Mutation of LGMD 2I

Answer 21

FKRP

Question 22

Mutation of LGMD 2J

Answer 22

TITIN

Question 23

Mutation of LGMD 2M

Answer 23

POMGNT1

Question 24

Defect of Myotonic dystrophy

Answer 24

CTG repeat

Question 25

Defect of Myotonic Myopathy

Answer 25

CCTG

Question 26

Defect in FSHD

Answer 26

4q telomerase

Question 27

Defect in Oculopharyngeal dystrophy

Answer 27

GCG expansion

Question 28

Defect in Bethelem myopathy

Answer 28

Collagen VI

Question 29

Defect in Myofibrillary Myopathy

Answer 29

Myotilin Desmin

Question 30

AR Distal Myopathies

Answer 30

Miyoshi

Nonaka

Question 31

AD Distal Myopathies

Answer 31

Welander Distal Myopathy
Tibial Muscular Distrophy
Scapuloperoneal Dystrophy
Desmin Myopathy
Gower laing 
Markesberry-Grigs

Question 32

Defect in Welander Distal Myopathy

Answer 32

Unknown

Question 33

Defect in Tibial Muscular Distrophy

Answer 33

Titin

Question 34

Defect in Scapuloperoneal Dystrophy

Answer 34

X-linked

Question 35

Defect in Gower Laing

Answer 35

MYHC-1

Question 36

Defect in Markesberry-Grigs

Answer 36

ZASP