Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary Pattern*2 |
Onset |
Reference |
M |
68 |
1 |
C |
V23A |
1 |
GTA-GCA at ntd 68 --> Val-Ala at codon 23 |
X-linked Charcot-Marie-Tooth disease type 2 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bort (1997) Hum. Genet. 99, 746. |
M |
191 |
1 |
C |
C64S |
1 |
TGC-TCC at ntd 191 --> Cys-Ser at codon 64 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bort (1997) Hum. Genet. 99, 746. |
M |
259 |
1 |
T |
P87S |
1 |
CCA-TCA at ntd 259 --> Pro-Ser at codon 87 |
X-linked Charcot-Marie-Tooth disease type 2 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bort (1997) Hum. Genet. 99, 746. |
M |
490 |
1 |
T |
R164W |
1 |
CGG-TGG at ntd 490 --> Arg-Trp at codon 164 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bort (1997) Hum. Genet. 99, 746. |
M |
491 |
1 |
A |
R164G |
2 |
CGG-CAG at ntd 491 --> Arg-Gln at codon 164 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bort (1997) Hum. Genet. 99, 746. |
M |
547 |
1 |
A |
R183S |
1 |
CGC-AGC at ntd 547 --> Arg-Ser at codon 183 |
X-linked Charcot-Marie-Tooth disease type 2 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bort (1997) Hum. Genet. 99, 746. |
M |
548 |
1 |
A |
R183H |
1 |
CGC-CAC at ntd 548 --> Arg-His at codon 183 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bort (1997) Hum. Genet. 99, 746. |
M |
547 |
1 |
T |
R183C |
1 |
CGC-TGC at ntd 547 --> Arg-Cys at codon 183 |
X-linked Charcot-Marie-Tooth disease type 2 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bort (1997) Hum. Genet. 99, 746. |
M |
643 |
1 |
T |
R215W |
1 |
CGG-TGG at ntd 643 --> Arg-Trp at codon 215 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bort (1997) Hum. Genet. 99, 746. |
N |
65 |
2 |
TA |
R22X |
1 |
CGA-TAA at ntd 65 --> Arg-Term at codon 22 |
X-linked Charcot-Marie-Tooth disease type 1 |
severe distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
M |
65 |
1 |
A |
R22Q |
2 |
CGA-CAA at ntd 65 --> Arg-Gln at codon 22 |
X-linked Charcot-Marie-Tooth disease type 1 |
moderate to severe distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
M |
230 |
1 |
C |
W77S |
1 |
TGG-TCG at ntd 230 --> Trp-Ser at codon 77 |
X-linked Charcot-Marie-Tooth disease type 1 |
mild distal muscle atrophy, areflexia and foot deformity |
XD |
late |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
M |
239 |
1 |
G |
Q80R |
1 |
CAG-CGG at ntd 239 --> Gln-Arg at codon 80 |
X-linked Charcot-Marie-Tooth disease type 1 |
mild distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
M |
305 |
1 |
G |
Q102G |
4 |
GAG-GGG at ntd 305 --> Glu-Gly at codon 102 |
X-linked Charcot-Marie-Tooth disease type 1 |
mild distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
D |
331 |
18 |
|
331del18 |
1 |
18-bp del at nucleotide 331-348 --> del of 6 amino acids at codons 111-116 |
X-linked Charcot-Marie-Tooth disease type 1 |
mild to moderate distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
M |
424 |
1 |
T |
R142W |
2 |
CGG-TGG at ntd 424 --> Arg-Trp at codon 142 |
X-linked Charcot-Marie-Tooth disease type 1 |
mild distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
M |
490 |
1 |
T |
R164W |
2 |
CGG-TGG at ntd 490 --> Arg-Trp at codon 164 |
X-linked Charcot-Marie-Tooth disease type 1 |
moderate to severe distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
FI |
556 |
0 |
G |
556insG |
1 |
1-bp ins of G at nucleotide 556 --> frameshift at codon 186 |
X-linked Charcot-Marie-Tooth disease type 1 |
severe distal muscle atrophy, areflexia and foot deformity |
XD |
late |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
N |
556 |
1 |
T |
Q186X |
1 |
GAG-TAG at ntd 556 --> Glu-Term at codon 186 |
X-linked Charcot-Marie-Tooth disease type 1 |
severe distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
N |
651 |
1 |
A |
C217X |
2 |
TGT-TGA at ntd 651 --> Cys-Term at codon 217 |
X-linked Charcot-Marie-Tooth disease type 1 |
severe distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
N |
658 |
1 |
T |
R220X |
1 |
CGA-TGA at ntd 658 --> Arg-Term at codon 220 |
X-linked Charcot-Marie-Tooth disease type 1 |
severe distal muscle atrophy, areflexia and foot deformity |
XD |
late |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
FD |
793 |
29 |
|
793del29 |
1 |
del of 29-bp at nucleotides 793-821 --> termination at codon 266 |
X-linked Charcot-Marie-Tooth disease type 1 |
severe distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
M |
8 |
1 |
C |
W3S |
1 |
TGG-TCG at ntd 8 --> Trp-Ser at codon 3 |
X-linked Charcot-Marie-Tooth disease type 1 |
moderate to severe distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
M |
7 |
1 |
C |
W3R |
1 |
TGG-CGG at ntd 7 --> Trp-Arg at codon 3 |
X-linked Charcot-Marie-Tooth disease type 1 |
mild distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
M |
34 |
1 |
A |
G12S |
1 |
GGC-AGC at ntd 34 --> Gly-Ser at codon 12 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bergoffen (1993) Science 262, 2039. |
M |
415 |
1 |
A |
V139M |
2 |
GTG-ATG at ntd 415 --> Val-Met at codon 139 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bergoffen (1993) Science 262, 2039. |
M |
424 |
1 |
T |
R142W |
1 |
CGG-TGG at ntd 424 --> Arg-Trp at codon 142 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bergoffen (1993) Science 262, 2039. |
M |
467 |
1 |
G |
L156R |
1 |
CTC-CGC at ntd 467 --> Leu-Arg at codon 156 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bergoffen (1993) Science 262, 2039. |
M |
514 |
1 |
T |
P172S |
1 |
CCC-TCC at ntd 514 --> Pro-Ser at codon 172 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bergoffen (1993) Science 262, 2039. |
M |
556 |
1 |
A |
E186K |
1 |
GAG-AAG at ntd 556 --> Glu-Lys at codon 186 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bergoffen (1993) Science 262, 2039. |
M |
415 |
1 |
A |
V139M |
1 |
CTG-ATG at ntd 415 --> Val-Met at codon 139 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bone (1995) Neurology 45, 1863. |
M |
397 |
1 |
C |
W133R |
1 |
TGG-CGG at ntd 397 --> Trp-Arg at codon 133 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bone (1995) Neurology 45, 1863. |
N |
658 |
1 |
T |
R220X |
2 |
CGA-TGA at ntd 658 --> Arg-Term at codon 220 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bone (1995) Neurology 45, 1863. |
M |
89 |
1 |
A |
I30N |
1 |
ATC-AAC at ntd 89 --> Ile-Asn at codon 30 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bone (1995) Neurology 45, 1863. |
M |
467 |
1 |
G |
L156R |
1 |
CTC-CGC at ntd 467 --> Leu-Arg at codon 156 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bone (1995) Neurology 45, 1863. |
M |
194 |
1 |
G |
Y65C |
1 |
TAT-TGT at ntd 194 --> Tyr-Cys at codon 65 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bone (1995) Neurology 45, 1863. |
M |
37 |
1 |
T |
V13L |
1 |
GTG-TTG at ntd 37 --> Val-Leu at codon 13 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bone (1995) Neurology 45, 1863. |
FD |
410 |
1 |
|
410delT |
1 |
1-bp del of T at nucleotide 410 --> frameshift at codon 137 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bone (1995) Neurology 45, 1863. |
M |
283 |
1 |
A |
V95M |
1 |
GTG-ATG at ntd 283 --> Val-Met at codon 95 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Bone (1995) Neurology 45, 1863. |
M |
44 |
1 |
A |
R15E |
1 |
CGG-CAG at ntd 44 --> Arg-Gln at codon 15 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Fairweather (1994) Hum. Mol. Genet. 3, 29. |
M |
179 |
1 |
T |
C60F |
1 |
TGC-TTC at ntd 179 --> Cys-Phe at codon 60 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Fairweather (1994) Hum. Mol. Genet. 3, 29. |
M |
187 |
1 |
A |
V63I |
1 |
GTT-ATT at ntd 187 --> Val-Ile at codon 63 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Fairweather (1994) Hum. Mol. Genet. 3, 29. |
FD |
217 |
1 |
|
217delC |
1 |
1-bp del of C at nucleotide 217 --> frameshift at codon 73 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Fairweather (1994) Hum. Mol. Genet. 3, 29. |
D |
428 |
3 |
|
428delTGT |
1 |
3-bp del of TGT at nucleotides 428-430 --> del of Leu at codon 143 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Fairweather (1994) Hum. Mol. Genet. 3, 29. |
M |
622 |
1 |
A |
Q208K |
1 |
GAG-AAG at ntd 622 --> Gln-Lys at codon 208 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Fairweather (1994) Hum. Mol. Genet. 3, 29. |
M |
643 |
1 |
T |
R215W |
1 |
CGG-TGG at ntd 643 --> Arg-Trp at codon 215 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Fairweather (1994) Hum. Mol. Genet. 3, 29. |
N |
658 |
1 |
T |
R220X |
1 |
CGA-TGA at ntd 658 --> Arg-Term at codon 220 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Fairweather (1994) Hum. Mol. Genet. 3, 29. |
M |
43 |
1 |
T |
R15W |
1 |
CGG-TGG at ntd 43 --> Arg-Trp at codon 15 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Janssen (1997) Hum. Genet. 99, 501. |
N |
64 |
1 |
T |
R22X |
1 |
CGA-TGA at ntd 64 --> Arg-Term at codon 22 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Janssen (1997) Hum. Genet. 99, 501. |
M |
187 |
1 |
A |
V63I |
1 |
GTT-ATT at ntd 187 --> Val-Ile at codon 63 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Janssen (1997) Hum. Genet. 99, 501. |
M |
254 |
1 |
G |
S85C |
1 |
TCC-TGC at ntd 254 --> Ser-Cys at codon 85 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle paresis |
XD |
late |
Janssen (1997) Hum. Genet. 99, 501. |
M |
259 |
1 |
T |
P87S |
1 |
CCA-TCA at ntd 259--> Pro-Ser at codon 87 |
X-linked Charcot-Marie-Tooth disease type 1 |
severe distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Janssen (1997) Hum. Genet. 99, 501. |
M |
266 |
1 |
C |
L89P |
1 |
CTC-CCC at ntd 266 --> Leu-Pro at codon 89 |
X-linked Charcot-Marie-Tooth disease type 1 |
mild distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Janssen (1997) Hum. Genet. 99, 501. |
M |
415 |
1 |
A |
V139M |
1 |
GTG-ATG at ntd 415 --> Val-Met at codon 139 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Janssen (1997) Hum. Genet. 99, 501. |
M |
595 |
1 |
C |
G199R |
1 |
GGC-CGC at ntd 595 --> Gly-Arg at codon 199 |
X-linked Charcot-Marie-Tooth disease type 1 |
mild distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Janssen (1997) Hum. Genet. 99, 501. |
M |
20 |
1 |
G |
Y7C |
1 |
TAC-TGC at ntd 20 --> Tyr-Cys at codon 7 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Schiavon (1996) Hum. Mutat. 8, 83. |
M |
73 |
1 |
T |
L25F |
1 |
CTC-TTC at ntd 73 --> Leu-Phe at codon 25 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Nelis (1997) Hum. Mutat. 9, 47. |
M |
77 |
1 |
T |
S26L |
1 |
TCG-TTG at ntd 77 --> Ser-Leu at codon 26 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Nelis (1997) Hum. Mutat. 9, 47. |
M |
259 |
1 |
G |
P87A |
1 |
CCA-GCA at ntd 259 --> Pro-Ala at codon 87 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Nelis (1997) Hum. Mutat. 9, 47. |
M |
713 |
1 |
A |
R238H |
1 |
CGC-CAC at ntd 713 --> Arg-His at codon 238 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Nelis (1997) Hum. Mutat. 9, 47. |
N |
842 |
1 |
A |
S281X |
1 |
TCG-TAG at ntd 842 --> Ser-Term at codon 281 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Nelis (1997) Hum. Mutat. 9, 47. |
M |
77 |
1 |
T |
S26L |
1 |
TCG-TTG at ntd 77 --> Ser-Leu at codon 26 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Yoshimura (1996) Hum. Mutat. 8, 270. |
M |
158 |
1 |
C |
C53S |
1 |
TGC-TCC at ntd 158 --> Cys-Ser at codon 53 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Yoshimura (1996) Hum. Mutat. 8, 270. |
M |
101 |
1 |
C |
M34T |
1 |
ATG-ACG at ntd 101 --> Met-Thr at codon 34 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Tan (1996) Hum. Mutat. 7, 167. |
M |
224 |
1 |
A |
R75Q |
1 |
CGG-CAG at ntd 224 --> Arg-Gln at codon 75 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Tan (1996) Hum. Mutat. 7, 167. |
M |
319 |
1 |
T |
R107W |
1 |
CGG-TGG at ntd 319 --> Arg-Trp at codon 107 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Tan (1996) Hum. Mutat. 7, 167. |
N |
633 |
1 |
A |
Y211X |
1 |
TAC-TAA at ntd 633 --> Tyr-Term at codon 211 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Tan (1996) Hum. Mutat. 7, 167. |
M |
65 |
1 |
C |
R22P |
1 |
CGA-CCA at ntd 65 --> Arg-Pro at codon 22 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ressot (1996) Hum. Genet. 98, 172. |
N |
64 |
1 |
T |
R22X |
1 |
CGA-TGA at ntd 64 --> Arg-Term at codon 22 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ressot (1996) Hum. Genet. 98, 172. |
M |
64 |
1 |
G |
R22G |
1 |
CGA-GGA at ntd 64 --> Arg-Gly at codon 22 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ressot (1996) Hum. Genet. 98, 172. |
N |
398 |
1 |
A |
W133X |
1 |
TGG-TGA at ntd 398 --> Trp-Term at codon 133 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ressot (1996) Hum. Genet. 98, 172. |
M |
643 |
1 |
T |
R215W |
1 |
CGG-TGG at ntd 643 --> Arg-Trp at codon 215 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ressot (1996) Hum. Genet. 98, 172. |
N |
64 |
1 |
T |
R22X |
1 |
CGA-TGA at ntd 64 --> Arg-Term at codon 22 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1994) Hum. Molec. Genet. 3, 355. |
M |
305 |
1 |
G |
E102G |
1 |
GAG-GGG at ntd 305 --> Glu-Gly at codon 102 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1994) Hum. Molec. Genet. 3, 355. |
M |
425 |
1 |
A |
R142Q |
1 |
CGG-CAG at ntd 425 --> Arg-Gln at codon 142 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1994) Hum. Molec. Genet. 3, 355. |
N |
556 |
1 |
T |
E186X |
1 |
GAG-TAG at ntd 556 --> Glu-Term at codon 186 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1994) Hum. Molec. Genet. 3, 355. |
N |
651 |
1 |
A |
C217X |
1 |
TGT-TGA at ntd 651 --> Cys-Term at codon 217 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1994) Hum. Molec. Genet. 3, 355. |
M |
112 |
1 |
A |
V38M |
1 |
GTG-ATG at ntd 112 --> Val-Met at codon 38 |
X-linked Charcot-Marie-Tooth disease type 1 |
distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Orth (1994) Hum. Molec. Genet. 3, 1699. |
M |
65 |
1 |
A |
R22Q |
2 |
CGA-CAA at ntd 65 --> Arg-Gln at codon 22 |
X-linked Charcot-Marie-Tooth disease type 2 |
severe distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Silander (1997) Hum. Genet. 100, 391. |
M |
65 |
1 |
A |
R22Q |
1 |
CGA-CAA at ntd 65 --> Arg-Gln at codon 22 |
X-linked Charcot-Marie-Tooth disease type 1 |
mild distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Silander (1997) Hum. Genet. 100, 391. |
M |
224 |
1 |
A |
R75Q |
1 |
CGG-CAG at ntd 224 --> Arg-Gln at codon 75 |
X-linked Charcot-Marie-Tooth disease type 2 |
moderate distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Silander (1997) Hum. Genet. 100, 391. |
M |
223 |
1 |
T |
R75W |
1 |
CGG-TGG at ntd 223 --> Arg-Trp at codon 75 |
X-linked Charcot-Marie-Tooth disease type unspecified |
mild distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Silander (1997) Hum. Genet. 100, 391. |
M |
319 |
1 |
T |
R107W |
1 |
CGG-TGG at ntd 319 --> Arg-Trp at codon 107 |
X-linked Charcot-Marie-Tooth disease type 2 |
severe distal muscle atrophy, areflexia and foot deformity |
XD |
late |
Silander (1997) Hum. Genet. 100, 391. |
M |
415 |
1 |
A |
V139M |
1 |
GTG-ATG at ntd 415 --> Val-Met at codon 139 |
X-linked Charcot-Marie-Tooth disease type 2 |
moderate distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Silander (1997) Hum. Genet. 100, 391. |
M |
580 |
1 |
G |
M194V |
1 |
ATG-GTG at ntd 580 --> Met-Val at codon 194 |
X-linked Charcot-Marie-Tooth disease type 2 |
severe distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Silander (1997) Hum. Genet. 100, 391. |
PR |
-528 |
1 |
G |
-528T->G |
1 |
T-G at nucleotide -528 |
X-linked Charcot-Marie-Tooth disease type 1 |
moderate distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Neurology 47, 541. |
PR |
-458 |
1 |
T |
-458C->T |
1 |
C-T at nucleotide -458 |
X-linked Charcot-Marie-Tooth disease type 1 |
moderate distal muscle atrophy, areflexia and foot deformity |
XD |
early |
Ionasescu (1996) Neurology 47, 541. |