|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
CausalMutation
|
CLINVAR |
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.
|
18422810 |
2008 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
|
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 |
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
|
12207932 |
2002 |
|
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 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and genetic analysis of CMT1B in a Nigerian family.
|
12707985 |
2003 |
|
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 |
GeneticVariation
|
UNIPROT |
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
|
12477701 |
2003 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
|
18337304 |
2008 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
|
10965800 |
2000 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.
|
16488608 |
2006 |
|
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 |
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 |
GeneticVariation
|
UNIPROT |
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
|
12402337 |
2002 |
|
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 |
Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
|
11437164 |
2001 |
|
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 |
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 |
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
|
9452091 |
1998 |
|
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 |
Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B.
|
9217235 |
1997 |