×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
7506095
1993
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.
7675244
1995
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
7728152
1995
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
8252046
1993
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22 .
8275092
1993
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
8630052
1996
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
We have identified five novel mutations in the myelin protein zero (MPZ ) gene, encoding the major structural protein (P0 ) of peripheral nerve myelin, in patients with either CMT1B , DSS , or CH.
8816708
1996
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.
8995589
1997
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
9004143
1996
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
9055797
1997
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
9187667
1997
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
9187667
1997
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
We identified three de novo point mutations in MPZ exon 3 in a sporadic DSS patient.
9222756
1997
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
9452053
1998
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.
9452055
1998
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
9452091
1998
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions 426 and 427 of exon 4 (this is predicted to alter the reading frame at leucine 80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position 636 leading to a cysteine substitution for glycine 150.
9544841
1998
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.
9585367
1998
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
A novel PMP22 mutation, deletion of Phe84, was found in one sporadic DSS patient.
9633821
1998
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
In the P0 gene a Ser78Leu mutation was found in one family with severe CMT1 and a de novo Tyr82Cys mutation was found in one DSS patient.
9633821
1998
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease .
10211478
1999
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.940
GeneticVariation
UNIPROT
A de novo missense mutation (Arg359Trp) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS .
10371530
1999
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22 .
10663978
2000
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
11438991
2001
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
11438991
2001