Genes Loci
HMSN |
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|---|---|---|---|---|---|
| Form | Inheritance | Locus | Reference | Gene | Reference |
CMT1 |
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| CMT1A | AD | 17p11.2 | Vance et al., 1989 | PMP22 |
Raeymaekers et al., 1991 Lupski et al., 1991 |
| CMT1B, DSS,CH | AD | 1q22-q23 | Bird et al., 1982 | MPZ (P0) |
Hayasaka et al., 1993 Hayasaka et al., 1993 Hayasaka et al., 1993 |
| CMT1C | AD | 16p13.1-p12.3 | Street et al., 2001 | LITAF (SIMPLE) |
Street et al., 2003 |
| CMT1 (CMT1D), DSS, CH | AD | 10q21.1-q22.1 | EGR2 |
Warner et al., 1998 |
|
| CMT1 (CMT1E) | AD | 8p21 | NEFL |
Jordanova et al., 2003 |
|
| DSS | AD | 8qter | Ionasescu et al., 1996 | unknown |
|
CMT4 |
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| CMT4A | AR | 8q13-q21 | Ben Othmane et al., 1993 | GDAP1 |
Baxter et al., 2002 |
| CMT4B1 | AR | 11q23 | Bolino et al., 1996 | MTMR2 |
Bolino et al., 2000 |
| CMT4B2 | AR | 11p15 | Ben Othmane et al., 1999 | SBF2 (MTMR13) |
Senderek et al., 2003 |
| CMT4C | AR | 5q23-q33 | LeGuern et al., 1996 | SH3TC2 (KIAA1985) |
Senderek et al., 2003 |
| CMT4D (HMSN-L) | AR | 8q24 | Kalaydjieva et al., 1996 | NDRG1 |
Kalaydjieva et al., 2000 |
| CMT4E (CHN) | AR | 10q21.1-q22.1 | EGR2 |
Warner et al., 1998 |
|
| CMT4F (DSS) | AR | 19q13.1-q13.3 | Delague et al., 2000 | PRX |
Boerkoel et al., 2001 Guilbot et al., 2001 |
| CCFDN | AR | 18q23-qter | Angelicheva et al., 1999 | CTDP1 |
Varon et al., 2003 |
| CMT4G (HMSN-R) | AR | 10q23 | Rogers et al., 2000 | unknown |
|
| CMT4H | AR | 12p11.1-q13.11 | De Sandre-Giovannoli et al., 2005 | FGD4 |
Stendel et al., 2007 Delague et al., 2007 |
| CMT4J | AR | 6q21 | FIG4 |
Chow et al., 2007 |
|
DI-CMT |
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| DI-CMTA | AD | 10q24.1-q25.1 | Verhoeven et al., 2001 | unknown |
|
| HMSN-P | AD | 3q13.1 | Takashima et al., 1997 | unknown |
|
| DI-CMTC | AD | 1p34-p35 | Jordanova et al., 2003 | YARS |
Jordanova et al., 2006 |
| slow NCV | AD | 8p23 | Verhoeven et al., 2003 | ARHGEF10 |
Verhoeven et al., 2003 |
| DI-CMT | AD | 1q22-q23 | MPZ |
Mastaglia et al., 1999 |
|
CMT2 |
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| CMT2A | AD | 1p35-p36 | Ben Othmane et al., 1993 | MFN2 |
Züchner et al., 2004 |
| CMT2A | AD | 1p35-p36 | Ben Othmane et al., 1993 | KIF1B |
Zhao et al., 2001 |
| CMT2B | AD | 3q13-q22 | Kwon et al., 1995 | RAB7 |
Verhoeven et al., 2003 |
| CMT2C | AD | 12q23-q24 | Klein et al., 2003 | unknown |
|
| CMT2D | AD | 7p14 | Ionasescu et al., 1996 | GARS |
Antonellis et al., 2003 |
| CMT2E | AD | 8p21 | Mersiyanova et al., 2000 | NEFL |
Mersiyanova et al., 2000 |
| CMT2F | AD | 7q11-21 | Ismailov et al., 2001 | HSPB1 (HSP27) |
Evgrafov et al., 2004 |
| CMT2G | AD | 12q12-q13.3 | Nelis et al., 2004 | unknown |
|
| CMT2 | AD | 1q22-q23 | MPZ |
De Jonghe et al., 1999 Marrosu et al., 1997 |
|
| CMT2L | AD | 12q24 | Tang et al., 2004 | HSPB8 |
Tang et al., 2005 |
AR-CMT2 or CMT4C |
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| AR-CMT2A (CMT4C1) | AR | 1q21.2-q21.3 | Bouhouche et al., 1999 | LMNA |
De Sandre-Giovannoli et al., 2002 |
| AR-CMT2 (CMT4C2) | AR | 8q21.3 | Barhoumi et al., 2001 | unknown |
|
| AR-CMT2B (CMT4C3) | AR | 19q13.3 | Leal et al., 2001 | unknown |
|
| AR-CMT2 (CMT4C4) | AR | 8q21 | Cuesta et al., 2002 | GDAP1 |
Cuesta et al., 2002 |
CMTX |
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| CMTX or CMT1X | XR/XD | Xq13.1 | Gal et al., 1985 | GJB1 (Cx32) |
Bergoffen et al., 1993 |
| CMT2X or Cowchock syndrome | XR | Xq24-q26 | Priest et al., 1995 | unknown |
|
| CMT3X | XR | Xp22.2 | Ionasescu et al., 1991 | unknown |
|
| CMT4X | XR | Xq26-q28 | Ionasescu et al., 1991 | unknown |
|
| CMTX5 | XR | Xq21.32-q24 | Kim et al., 2005 | PRPS1 |
Kim et al., 2007 |
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distal HMN |
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| Form | Inheritance | Locus | Reference | Gene | Reference |
| distal HMN II | AD | 12q24 | Timmerman et al., 1996 | HSPB8 (HSP22) |
Irobi et al., 2004 |
| distal HMN V | AD | 7p | Christodoulou et al., 1995 | GARS |
Antonellis et al., 2003 |
| distal HMN VI | AR | 11q13-q23 | Grohmann et al., 1999 | IGHMBP2 |
Grohmann et al., 2001 |
| distal HMN VIIA | AD | 2q14 | McEntagart et al., 2001 | unknown |
|
| distal HMN VIIB | AD | 2p13 | Puls et al., 2003 | DCTN1 |
Puls et al., 2003 |
| distal HMN / ALS4 | AD | 9q34 | Chance et al., 1998 | ALS4 (SETX) |
Chen et al., 2004 |
| distal HMN-Jerash-type | AR | 9p21.1-p12 | Christodoulou et al., 2000 | unknown |
|
| distal HMN / Silver syndrome (SPG17) | AD | 11q13 | Patel et al., 2001 | BSCL2 |
Windpassinger et al., 2004 |
| distal HMN X | AR | Xq13.1-q21 | Takata et al., 2004 | unknown |
|
| congenital distal SMA | AD | 12q23-q24 | van der Vleuten et al., 1998 | unknown |
|
| Autosomal recessive lower motor neuron disease with childhood onset | AR | 1p36 | Maystadt et al., 2006 | PLEKHG5 |
Maystadt et al., 2007 |
|
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HS(A)N |
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| Form | Inheritance | Locus | Reference | Gene | Reference |
| DI-CMTB | AD | 19p12-p13.2 | Kennerson et al., 2001 | DNM2 |
Züchner et al., 2005 |
| HS(A)N I | AD | 9q22 | Nicholson et al., 1996 | SPTLC1 |
Bejaoui et al., 2001 Dawkins et al., 2001 |
| HS(A)N II | AR | 12p13.33 | Lafrenière et al., 2004 | HSN2 |
Lafrenière et al., 2004 |
| HS(A)N III | AR | 9q31-q33 | Blumenfeld et al., 1993 | IKBKAP |
Slaugenhaupt et al., 2001 |
| HS(A)N IV / V | AR | 1q21-q22 | NTRK1 (TRKA) |
Indo et al., 1996 Houlden et al., 2001 |
|
| HSAN V | AR | 1p13.1 | Einarsdottir et al., 2004 | NGFB |
Einarsdottir et al., 2004 |
| HSN I + cough + gastroesophageal reflux | AD | 3p22-p24 | Kok et al., 2003 | unknown |
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Hereditary recurrent focal neuropathies |
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| Form | Inheritance | Locus | Reference | Gene | Reference |
| HNPP | AD | 17p11.2 | Mariman et al., 1993 | PMP22 |
Chance et al., 1993 |
| HNA | AD | 17q25 | Pellegrino et al., 1996 | SEPT9 |
Kuhlenbäumer et al., 2005 |
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Other forms |
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| Form | Inheritance | Locus | Reference | Gene | Reference |
| GAN | AR | 16q24.1 | Ben Hamida et al., 1997 | GAN |
Bomont et al., 2000 |
| ACCPN (Andermann syndrome) | AR | 15q | Casaubon et al., 1996 | SLC12A6 (KCC3) |
Howard et al., 2002 |
| CH + Waardenburg-Hirschsprung | AD | 22q13.1 | SOX10 |
Pingault et al., 2000 |
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