|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.
|
7504284 |
1993 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.
|
7505151 |
1993 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
|
7694726 |
1993 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
|
7693129 |
1993 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
|
7530774 |
1994 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
|
7527371 |
1994 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
|
7527371 |
1994 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
|
7527371 |
1994 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
|
8797476 |
1996 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.
|
8844219 |
1996 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
|
8816708 |
1996 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
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 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
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 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B.
|
9217235 |
1997 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
|
9452091 |
1998 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands.
|
10093067 |
1998 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
|
9452099 |
1998 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
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 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.
|
10545037 |
1999 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
BEFREE |
The report adds Ser49Leu to the mutations of P0ex associated with focally folded myelin and provides strong evidence that such a structural alteration of the myelin sheath reflects a distinct pathogenetic mechanism in a subgroup of CMT1B.
|
10965800 |
2000 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
|
10737979 |
2000 |