| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
ANO5
|
anoctamin 5
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CAV3
|
caveolin 3
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHKB
|
choline kinase beta
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
CRYAB
|
crystallin, alpha B
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DES
|
desmin
|
|
DMD
|
dystrophin
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EGR2
|
early growth response 2
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNC
|
filamin C, gamma
|
|
GAA
|
glucosidase, alpha; acid
|
|
GAN
|
gigaxonin
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KIF1B
|
kinesin family member 1B
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LBR
|
lamin B receptor
|
|
LDB3
|
LIM domain binding 3
|
|
LMNA
|
lamin A/C
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
LYST
|
lysosomal trafficking regulator
|
|
MFN2
|
mitofusin 2
|
|
MPZ
|
myelin protein zero
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
MTMR2
|
myotubularin related protein 2
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
NEB
|
nebulin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
OAT
|
ornithine aminotransferase
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PRX
|
periaxin
|
|
PTRF
|
polymerase I and transcript release factor
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SBF2
|
SET binding factor 2
|
|
SEPN1
|
selenoprotein N, 1
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
STIM1
|
stromal interaction molecule 1
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
TCAP
|
titin-cap
|
|
TFG
|
TRK-fused gene
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM43
|
transmembrane protein 43
|
|
TNXB
|
tenascin XB
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRDN
|
triadin
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTN
|
titin
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VCP
|
valosin containing protein
|
