| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
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)
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
DSE
|
dermatan sulfate epimerase
|
|
FGF23
|
fibroblast growth factor 23
|
|
FKRP
|
fukutin related protein
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
MTM1
|
myotubularin 1
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NEB
|
nebulin
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLEC
|
plectin
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PTRF
|
polymerase I and transcript release factor
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SEPN1
|
selenoprotein N, 1
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
TPM3
|
tropomyosin 3
|
|
TTN
|
titin
|
