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CMT CLASSIFICATION
Charcot Marie Tooth Disease
HMSN = Hereditary motor sensory neuropathy
05 November 2004
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Disease |
Inheritance |
Locus |
Gene |
Features |
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CMT1 Demyelinating
Dominant |
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CMT1A |
AD |
17p11.2 |
PMP-22 |
duplication/point mutation |
|
CMT1B |
AD |
1q22 |
P0 |
point mutation |
|
CMT1C |
AD |
16p13 |
LITAF |
missense |
|
CMT1D |
AD |
10q21 |
EGR2 |
missense |
|
CMTX |
X-Linked |
Xq13 |
Connexin-32 |
point mutation |
|
CMT2
Axonal
Dominant |
|
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CMT2A |
AD |
1p36 |
KIF1Bb |
unknown |
|
CMT2B |
AD |
3q13 |
RAB7 |
unknown |
|
CMT2C |
AD |
unknown |
unknown |
unknown |
|
CMT2D |
AD |
7p14 |
unknown |
unknown |
|
CMT2E |
AD |
8p21 |
NF-68 |
point mutation |
|
CMT2F |
AD |
7q11 |
|
missense |
|
AR-CMT2
Recessive
Axonal |
|
|
|
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AR-CMT2A |
AR |
1q21 |
Lamin A/C |
point mutation |
|
AR-CMT2B |
AR |
19q13 |
unknown |
|
|
AR-CMT2 Ouvrier |
AR |
unknown |
unknown |
|
|
Andermann |
AR |
15q13 |
KCC3 |
Protein truncation; agenesis of
corpus callosum |
|
Cowchock |
AR |
Xq24-q26 |
|
|
|
CMT3
Dejerine Sottas |
AD (AR)
AD (AR)
AD |
17p11.2
1q22
10q21 |
PMP22
P0
EGR2
|
point mutation
point mutation
point mutation |
|
CMT4
Demyelinating |
|
|
|
|
|
CMT4A |
AR |
8q13 |
GDA P1 |
unknown |
|
CMT4B1 |
AR |
11q22 |
MTMR2 |
point deletion/insertion |
|
CMT4B2 |
AR |
11p15 |
SBF2 |
unknown |
|
CMT4C |
AR |
5q23 |
unknown |
unknown |
|
CMT4D (Lom) |
AR |
8q24 |
NDRG1 |
nonsense |
|
CMT4E |
AR |
10q21 |
EGR2 |
point mutation |
|
CMT4R-Russe |
AR |
10q22 |
unknown |
unknown |
|
CMT4F |
AR |
19q13 |
Periaxin |
unknown |
|
HMSN IV |
AR |
6q22 (adult)
10pter (childhood)
7q21 (infantile) |
phytanic acid |
|
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HMSN V with spastic paraplegia |
AD |
|
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HMSN VI with optic atrophy |
AD |
|
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HMSN VII with retinitis
pigmentosa |
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?NARP syndrome |
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