Neuromuscular
Product NameApplicationRegion
P021-SMACE Spinal muscular atrophy (SMA) SMN1 5q13.2; SMN2 5q13.2
P033-CMT1CE;MA;IL Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP) CMT/HNPP region 17p12; KIF1b 1p36
P034-DMD-1CE;CO;MA;IL Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD) DMD Xp21.1-p21.2
P035-DMD-2CE;CO;MA;IL 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-SMACE;CO;MA;IL 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 type 2B (LGMD2B) DYSF 2p13.2
P279-CACNA1A Episodic ataxia type 2; Hemiplegic migraine type 1, familial (FHM1) CACNA1A 19p13.13
P307-SEPT9 Neuralgic amyotrophy, hereditary (HNA) SEPT9 17q25.3
P309-MTM1 Myotubular myopathy, X-linked (XLMTM) MTM1 Xq28; MTMR1 Xq28
P326-LARGE1 Walker-Warburg syndrome LARGE 22q12.3; FKTN 9q31.2; POMT2 14q24.3
P348-ATP1A2-CACNA1A Hemiplegic migraine type 1, familial (FHM1); Hemiplegic migraine type 2, familial (FHM2) ATP1A2 1q23.2; CACNA1A 19p13.13
P350-CLCN1-KCNJ2 Myotonia congenita; Thomsen disease; Becker disease; Andersen-Tawil syndrome CLCN1 7q34; KCNJ2 17q24.3
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 Merosin-deficient congenital muscular dystrophy type 1A 6q22.33
P392-LAMA2 mix 2 Merosin-deficient congenital muscular dystrophy type 1A 6q22.33
P397-SCN4A-CACNA1S Hypokalemic periodic paralysis (HypoPP); Nondystrophic myotonias and primary periodic paralyses CACNA1S 1q32.1; SCN4A 17q23.3
P405-CMT1CE;MA;IL 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 Charcot-Marie-Tooth neuropathy type 2B (CMT2B); type 2D (CMT2D); type 2F (CMT2F); type 2L (CMT2L); Sensory neuropathy type IA, hereditary RAB7A 3q21.3; GARS 7p15.1; HSPB1 7q11.23; HSPB8 12q24.23; SPTLC1 9q22.31
P436-ANO5 Limb-girdle muscular dystrophy ANO5
P453-GAA Pompe disease 17q25.3
P460-SMA Spinal muscular athrophy (SMA) SMN1 5q13.2; SMN2 5q13.2
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