Neuromuscular
|
Product Name |
Application |
Region |
|
P021-SMA |
Spinal Muscular Atrophy (SMA) |
SMN1, SMN2, 5q13 |
|
P033-CMT1 CE |
Charcot-Marie Tooth disease (CMT1), Hereditary Neuropathy with liability to Pressure Palsies (HNPP) |
CMT1/HNPP region, 17p12 |
|
P034-DMD-1 CE |
Duchenne Muscular Dystrophy (DMD) |
DMD, Xp21.2 |
|
P035-DMD-2 CE |
Duchenne Muscular Dystrophy (DMD) |
DMD, Xp21.2 |
|
P048-LMNA/MYOT/ZMPSTE24 |
Laminopathies, Limb-girdle muscular dystrophy, Myofibrillar myopathies |
LMNA 1q22; ZMPSTE24 1p34; MYOT 5q31; CAV3 3p25 |
|
P058-IGHMBP2 |
Distal spinal muscular atrophy 1 (DSMA1), SMARD1, dHMN6 |
IGHMBP2 11q13 |
|
P060-SMA CE |
Spinal Muscular Atrophy (SMA) |
SMN1, SMN2, 5q13 |
|
P061-Lissencephaly |
Lissencephaly |
LIS1, DCX, POMT1, POMGnT1, FLNA |
|
P074-AR |
Androgen insensitivity syndrome (AIS) |
AR Xq12 |
|
P116-SGC |
Limb-girdle muscular dystrophy (LGMD) |
SGCA, SGCB, SGCD, SGCG, FKRP |
|
P129-GJB1 |
Charcot Marie Tooth disease, x-linked |
GJB1 Xq13.1 |
|
P143-MFN2-MPZ |
Charcot-Marie-Tooth disease (CMT2A/1B) |
MFN2 1p36.22, MPZ 1q23.3 |
|
P176-CAPN3 |
Limb girdle muscular dystrophy 2A (LGMD2A) |
CAPN3 15q15.1 |
|
P268-DYSF |
Limb girdle muscular dystrophies (LGMD) |
DYSF 2p13 |
|
P279-CACNA1A |
Episodic ataxia 2, Familial hemiplegic migraine |
CACNA1A |
|
P307-SEPT9 |
Hereditary neuralgic amyotrophy (HNA) |
SEPT9 17q25.3 |
|
P309-MTM1 |
Myotubular myopathy, x-linked (XLMTM) |
MTM1 Xq28, MTMR1 Xq28 |
|
P326-LARGE |
Walker-Warburg Syndrome |
LARGE, FKTN, POMT2 |
|
P348-ATP1A2-CACNA1A |
Migraine |
1q23, 19p13 |
|
P350-CLCN1-KCNJ2 |
Myotonia congenita, Thomsen’s disease, Becker’s disease, Andersen-Tawil syndrome |
CLCN1, KCNJ2 |
|
P353-CMT4 |
autosomal recessive demyelinating form |
SH3TC2; NEFL; GDAP1; EGR2; SBF2; MTMR2; PRX |
|
P391-LAMA2 mix 1 |
CMD, Merosin-deficient |
6q22.33 |
|
P392-LAMA2 mix 2 |
CMD, Merosin-deficient |
6q22.33 |
|
P397-SCN4A-CACNA1S |
nondystrophic myotonias and primary periodic paralyses |
CACNA1S, SCN4A |
|
P405-CMT1 CE |
Charcot Marie Tooth Disease |
CMT/HNPP region at 17p12 |
|
P406-CMT2 |
CMT2B/2D/2F |
various |
|
P436-ANO5 |
Limb-girdle muscular dystrophy |
ANO5 gene |
|
P453-GAA |
Pompe Disease |
17q25.3 |
|
P460-SMA (basic research) |
Spinal muscular Athrophy |
5q13.2 |
