Advances in the molecular diagnosis of Charcot-Marie-Tooth disease

doi:10.5316/wjn.v3.i3.42

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World Journal of Neurology

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World J Neurol. Sep 28, 2013; 3(3): 42-55
Published online Sep 28, 2013. doi: 10.5316/wjn.v3.i3.42

Table 1 Charcot-Marie-Tooth classifications

Type	Locus	Gene	OMIM	Ref.
CMT1: Dominant demyelinating
CMT1A	17p12	PMP22	*601097	[21,22]
CMT1B	1q22	MPZ	*159440	[28]
CMT1C	16p13	LITAF (SIMPLE)	*603794	[171]
CMT1D	10q21.3	EGR2	*129009	[37]
CMT1E	17p12	PMP22	*601097	[21,22]
CMT1F	8p21	NEFL	*162280	[105]
CMT1	14q32	FBLN5	*604580	[47]
CMT2: Dominant axonal
CMT2A	1p36.22	MFN2	*608507	[51,52]
CMT2B	3q21.3	RAB7	*602298	[55]
CMT2C	12q24.11	TRPV4	*605427	[61]
CMT2D	7p15	GARS	*600287	[64]
CMT2E	8p21	NEFL	*162280	[66]
CMT2F	7q11.23	HSPB1 (HSP27)	*602195	[69]
CMT2G	12q12-13.3	Unknown
CMT2H/2K	8q21.11	GDAP1	*606598	[76]
CMT 2I/2J	1q22	MPZ	*159440	[80,81]
CMT2L	12q24.3	HSPB8 (HSP22)	*608014	[83]
CMT2M	19p13	DNM2	*602378	[84]
CMT2N	16q22.1	AARS	*601065	[89]
CMT2O	14q32.31	DYNC1H1	*600112	[93]
CMT2P	9q33	LRSAM1	*610933	[95,96]
CMT2Q	10p14	DHTKD1	*614984	[100]
DI-CMT: Dominant intermediate
DI-CMTA	10q24.1-q25.1	Unknown
DI-CMTB	19p13	DNM2	*602378	[84]
DI-CMTC	1p35.1	YARS	*603623	[106]
DI-CMTD	1q22	MPZ	*159440	[10]
DI-CMTE	14q32.33	IFN2	*610982	[107]
DI-CMTF	3q26.33	GNB4	*610863	[108]
CMT4: Recessive demyelinating
CMT 4A	8q21.11	GDAP1	*606598	[78]
CMT 4B-1	11q22	MTMR2	*603557	[112]
CMT 4B-2	11p15	MTMR13 (SBF2)	*607697	[117]
CMT 4C	5q23-33	SH3TC2	*608206	[119]
CMT 4D	8q24.3	NDRG1	*605262	[125]
CMT 4E	10q21.3	EGR2	*129010	[37]
CMT 4F	19q13.2	PRX	*605725	[43,129]
CMT 4G	10q23.2	HK1	*142600	[134]
CMT 4H	12p11.21	FGD4	*611104	[137,138]
CMT 4J	6q21	FIG4	*609390	[141]
AR-CMT2: Recessive axonal
AR CMT 2A	1q22	LMNA	*150330	[144]
AR CMT 2B	19q13.3	MED25 (ACID1)	*610197	[146]
AR-CMT 2C	8p21	NEFL	*162280	[66,150]
AR CMT2D	8q21.11	GDAP1	*606598	[76]
AR CMT2E	9q33	LRSAM1	*610933	[95,96]
CMTX: X-linked
CMTX1	Xq13.1	GJB1	*304040	[153]
CMTX2	Xp22.2	Unknown
CMTX3	Xq26.3-q27.1	Unknown
CMTX4	Xq26.1	AIFM1	*300169	[161]
CMTX5	Xq22.3	PRPS1	*311850	[165]
CMTX6	Xp22.11	PDK3	*602526	[166]

OMIM: Online endelian inheritance in man; CMT: Charcot-Marie-Tooth; DI: Dominant intermediate; AR: Autosomal recessive.

Citation: Nicolaou P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3(3): 42-55
URL: https://www.wjgnet.com/2218-6212/full/v3/i3/42.htm
DOI: https://dx.doi.org/10.5316/wjn.v3.i3.42