| Symbol |
Name |
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACVR1
|
activin A receptor, type I
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARSB
|
arylsulfatase B
|
|
ATXN1
|
ataxin 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CAPN3
|
calpain 3, (p94)
|
|
CAV3
|
caveolin 3
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHKB
|
choline kinase beta
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
COL13A1
|
collagen, type XIII, alpha 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
DES
|
desmin
|
|
DHRS7B
|
dehydrogenase/reductase (SDR family) member 7B
|
|
DMD
|
dystrophin
|
|
DYSF
|
dysferlin
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
FKRP
|
fukutin related protein
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HOXB1
|
homeobox B1
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
ITGA7
|
integrin, alpha 7
|
|
KY
|
kyphoscoliosis peptidase
|
|
LAMA2
|
laminin, alpha 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LMNA
|
lamin A/C
|
|
MYH4
|
myosin, heavy chain 4, skeletal muscle
|
|
MYOF
|
myoferlin
|
|
MYOZ1
|
myozenin 1
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PLEC
|
plectin
|
|
PMP22
|
peripheral myelin protein 22
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
TTN
|
titin
|
|
USP14
|
ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
|
