rs121913595
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.
|
15377707 |
2004 |
rs121913595
|
|
|
0.760 |
GeneticVariation |
BEFREE |
We report on a Japanese family with Charcot Marie Tooth disease (CMT) with the Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene.
|
12911457 |
2003 |
rs121913595
|
|
|
0.760 |
GeneticVariation |
BEFREE |
We studied nerve conduction values, postural adaptation, sympathetic skin reflex, the variation in heart rate by the Valsalva ratio and pupillometry in 7 members of a French family in which CMT due to a Thr124Met mutation in the myelin protein zero (MPZ) gene was diagnosed.
|
12948789 |
2003 |
rs121913595
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.
|
10764043 |
2000 |
rs121913595
|
|
|
0.760 |
GeneticVariation |
BEFREE |
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
|
11080237 |
2000 |
rs121913595
|
|
|
0.760 |
GeneticVariation |
BEFREE |
We observed a missense mutation in the peripheral myelin protein zero gene (MPZ, Thr124Met) in seven Charcot-Marie-Tooth (CMT) families and in two isolated CMT patients of Belgian ancestry.
|
10071056 |
1999 |
rs121913595
|
|
A |
0.760 |
CausalMutation |
CLINVAR |
|
|
|
rs121913597
|
|
|
0.710 |
GeneticVariation |
BEFREE |
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
|
11080237 |
2000 |
rs121913597
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs1553259643
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
|
25614874 |
2014 |
rs1553259703
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
|
25614874 |
2014 |
rs760730366
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
|
25614874 |
2014 |
rs863225026
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
|
25614874 |
2014 |
rs281865128
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Sixty-three members of a large CMT 1B kindred were assessed for signs of peripheral neuropathy and cranial neuropathies then tested for the G163R mutation in the myelin protein zero (MPZ) gene.
|
30920665 |
2019 |
rs1553259760
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.
|
30677751 |
2018 |
rs1553259760
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
|
15036333 |
2004 |
rs281865128
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All families showed segregation of the mutations with the Charcot-Marie-Tooth phenotype as did a new family with the rare G163R mutation in the membrane domain.
|
12207932 |
2002 |
rs1553259662
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
|
21256749 |
2011 |
rs202176679
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eight of the mutations (L48Q, T65N, E97fs, G103W, P132T, T143R, V146G, c.645+1G>T) seem to be pathogenic on the basis of perfect segregation with the CMT phenotype and two (G213R and D246N), on the contrary, seem to be non-pathogenic/rare polymorphisms because they are present in healthy relatives.
|
20456450 |
2010 |
rs121913608
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel MPZ mutation, c.367G>A, is associated with a late-onset demyelinating CMT phenotype with autosomal dominant inheritance.
|
18209201 |
2008 |
rs121913599
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.
|
12940837 |
2003 |
rs121913603
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
|
12845552 |
2003 |
rs121913602
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We previously reported familial cases characterized by Charcot-Marie-Tooth disease (CMT) phenotype with abnormal myelin foldings and MPZ Ile62Phe mutation.
|
11935267 |
2002 |
rs572010627
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The S140T mutation in myelin P0 can be associated with conduction block and Charcot-Marie-Tooth should be part of the differential diagnosis of that phenomenon.
|
12207932 |
2002 |
rs879254038
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.
|
10764043 |
2000 |