Neuromuscular
Product NameApplicationRegion
P021-SMACEimproved Spinal muscular atrophy (SMA) SMN1 5q13.2; SMN2 5q13.2
P033-CMT1CEMAIL Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP) CMT/HNPP region 17p12; KIF1b 1p36
P034-DMD-1CECOMAIL Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD) DMD Xp21.1-p21.2
P035-DMD-2CECOMAIL Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD) DMD Xp21.1-p21.2
P048-LMNA/MYOT/ZMPSTE24 Laminopathies; Limb-girdle muscular dystrophy type 1A, 1B, 1C (LGMD1A/1B/1C); Emery-Dreifuss muscular dystrophy; Hutchinson-Gilford progeria syndrome; Myofibrillar myopathies LMNA 1q22; ZMPSTE24 1p34.2; MYOT 5q31.2; CAV3 3p25.3
P058-IGHMBP2 Distal spinal muscular atrophy 1 (DSMA1) IGHMBP2 11q13.3
P060-SMACECOMAIL Spinal muscular atrophy (SMA) SMN1 5q13.2; SMN2 5q13.2
P061-Lissencephaly Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA
P074-AR Androgen insensitivity syndrome (AIS); Spinal and bulbar muscular atrophy (SBMA) AR Xq12
P116-SGC Limb-girdle muscular dystrophy (LGMD) SGCA, SGCB, SGCD, SGCG, FKRP
P129-GJB1 Charcot-Marie-Tooth neuropathy, x-linked (CMTX1) GJB1 Xq13.1
P143-MFN2-MPZ Charcot-Marie-Tooth neuropathy type 2A (CMT2A); Charcot-Marie-Tooth neuropathy type 1B (CMT1B) 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-LARGE1 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 Marie-Tooth neuropathy type 4 (CMT4); Marie-Tooth neuropathy type 1F (CMT1F); Marie-Tooth neuropathy type 2E (CMT2E) SH3TC2 5q33.1; NEFL 8p21.2; GDAP1 8q21.11; EGR2 10q21.2; SBF2 11p15.4; MTMR2 11q21; PRX 19q13.2
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-CMT1CEMAIL Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP) CMT/HNPP region 17p12; MPZ 1q23.3; GJB1 Xq13.1
P406-CMT2 CMT2B/2D/2F various
P436-ANO5 Limb-girdle muscular dystrophy ANO5 gene
P453-GAA Pompe Disease 17q25.3
P460-SMA Spinal muscular Athrophy 5q13.2
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