| Symbol |
Name |
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACHE
|
acetylcholinesterase (Yt blood group)
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AR
|
androgen receptor
|
|
ASPA
|
aspartoacylase
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CNP
|
2',3'-cyclic nucleotide 3' phosphodiesterase
|
|
CNTF
|
ciliary neurotrophic factor
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNM2
|
dynamin 2
|
|
DST
|
dystonin
|
|
DYSF
|
dysferlin
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
FBN2
|
fibrillin 2
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
GAA
|
glucosidase, alpha; acid
|
|
GALC
|
galactosylceramidase
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
JSRP1
|
junctional sarcoplasmic reticulum protein 1
|
|
KIF1B
|
kinesin family member 1B
|
|
LAMA2
|
laminin, alpha 2
|
|
LDB3
|
LIM domain binding 3
|
|
LMNA
|
lamin A/C
|
|
MCM2
|
minichromosome maintenance complex component 2
|
|
MGRN1
|
mahogunin ring finger 1, E3 ubiquitin protein ligase
|
|
MTERF2
|
mitochondrial transcription termination factor 2
|
|
MTM1
|
myotubularin 1
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYH1
|
myosin, heavy chain 1, skeletal muscle, adult
|
|
MYH4
|
myosin, heavy chain 4, skeletal muscle
|
|
NEB
|
nebulin
|
|
NFATC3
|
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3
|
|
PAX7
|
paired box 7
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PMP22
|
peripheral myelin protein 22
|
|
PRKAB2
|
protein kinase, AMP-activated, beta 2 non-catalytic subunit
|
|
PSAP
|
prosaposin
|
|
PTRH2
|
peptidyl-tRNA hydrolase 2
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SLC34A1
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
|
|
SMS
|
spermine synthase
|
|
TBCE
|
tubulin folding cofactor E
|
|
USP14
|
ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
|
|
VCP
|
valosin containing protein
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VPS54
|
vacuolar protein sorting 54 homolog (S. cerevisiae)
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
