Return To The Previous Page
Buy a Package
Number Of Visible Items Remaining : 3 Item

Genetics of Charcot-Marie-Tooth types 1, 2, X, 3, and 4

Genetics of Charcot-Marie-Tooth types 1, 2, X, 3, and 4
Disorder Gene Locus
CMT1
CMT1A PMP22 17p12
CMT1B MPZ 1q23.3
CMT1C LITAF 16p13.13
CMT1D EGR2 10q21.3
CMT1E PMP22 17p12
CMT1F NEFL 8p21
CMT1G PMP2 8q21.13
CMT1H FBLN5 14q32.12
CMT1I POLR3B 12q23.2
Roussy-Levy MPZ 1q23.3
PMP22 17p12
CMT2
CMT2A MFN2 1p36.2
CMT2B RAB7 3q21.3
CMT2C TRPV4 12q24.1
CMT2D GARS 7p15
CMT2E NEFL 8p
CMT2F HSPB1 7q11.23
CMT2H Unknown 8q13-q23
CMT2I/2J MPZ 1q23.3
CMT2K GDAP1 (JPH1 modifier) 8q21.11
CMT2L HSPB8 12q24.23
CMT2M DNM2 19p13.2
CMT2N AARS1 16q22.1
CMT2O DYNC1H1 14q32.31
CMT2P LRSAM1 9q33.3-q34.1
CMT2S IGHMBP2 11q13.3
CMT2T MME 3q25.2
CMT2U MARS1 12q13.3
CMT2V NAGLU 17q21.2
CMT2W HARS1 5q31.3
CMT2X SPG11 15q21.1
CMT2Y VCP 9p13.3
CMT2Z MORC2 22q12.2
CMT2DD ATP2A1 1p13.1
CMTX
CMTX1 GJB1 Xq13.1
CMTX2 Not known Xp22
CMTX3 78kb insertion from chromosome 8 Xq27.1
CMTX4
(Cowchock syndrome)
AIFM1 Xq26
CMTX5 PRPS1 Xq22.3
CMTX6 PDK3 Xp22.11
CMT3
Dejerine-Sottas syndrome PMP22 17p12
MPZ 1q23.3
EGR2 10q21.3
Congenital hypomyelinating neuropathy PMP22 17p12
MPZ 1q23.3
EGR2 10q21.3
CMT4
CMT4A GDAP1 8q21.11
CMT4B1 MTMR2 11q21
CMT4B2 SBF2 11p15.4
CMT4B3 SBF1 22q13.33
CMT4C SH3TC2 5q32
CMT4D NDRG1 8q24.22
CMT4E EGR2 10q21.3
CMT4F PRX 19q13.2
CMT4G HK1 10q22.1
CMT4H FGD4 12p11.21
CMT4J FIG4 6q21
CMT4K SURF1 9q34.2
CMT is categorized into specific types (1, 2, X, 3, and 4), each of which is further subcategorized by lettered subtypes. CMT subtypes are associated with a particular gene.
CMT: Charcot-Marie-Tooth; NCV: nerve conduction velocity.
Graphic 72688 Version 10.0

Do you want to add Medilib to your home screen?