Myopathies Flashcards
X-Linked Dystrophy
- DMD
- Emery Dreifuss Dystrophy
- Scapulohumeral Dystrophy
Defect of DMD
Dystrophin
Defect of Emery Dreifuss Dystrophy
Emerin
Defect of Scapulohumeral Dystorphy
FHL 1
AD Limb Girdle Muscular Dystrophy
LGMD 1A-1E
Mutation of LGMD 1A
Myotilin
Mutation of LGMD 1B
Laminin A/C
Mutation of LGMD 1C
Caveolin-3
Mutation of LGMD 1D
6P
Mutation of LGMD 1E
Desmin
Only distal weakness LGMD
LGMD 1A
Early onset LGMD
LGMD 1B 1C 1E
Late onset LGMD
LGMD 1D and 1A
AD LGMD with Highest CK
LGMD 1C
AR LGMD
LGMD 2A-2M
Mutation of LGMD 2A
CALPAIN
Mutation of LGMD 2B
DYSFERLIN
Mutation of LGMD 2C-2F
B-Y SARCOGLYCAN
Mutation of LGMD 2G
TELETHRIN
Mutation of LGMD 2H
TRIM32
Mutation of LGMD 2I
FKRP
Mutation of LGMD 2J
TITIN
Mutation of LGMD 2M
POMGNT1
Defect of Myotonic dystrophy
CTG repeat
Defect of Myotonic Myopathy
CCTG
Defect in FSHD
4q telomerase
Defect in Oculopharyngeal dystrophy
GCG expansion
Defect in Bethelem myopathy
Collagen VI
Defect in Myofibrillary Myopathy
Myotilin Desmin
AR Distal Myopathies
Miyoshi
Nonaka
AD Distal Myopathies
Welander Distal Myopathy Tibial Muscular Distrophy Scapuloperoneal Dystrophy Desmin Myopathy Gower laing Markesberry-Grigs
Defect in Welander Distal Myopathy
Unknown
Defect in Tibial Muscular Distrophy
Titin
Defect in Scapuloperoneal Dystrophy
X-linked
Defect in Gower Laing
MYHC-1
Defect in Markesberry-Grigs
ZASP
