|
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 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.
|
18347322 |
2008 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.
|
18347322 |
2008 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and genetic analysis of CMT1B in a Nigerian family.
|
12707985 |
2003 |
|
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 |
|
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 |
|
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 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
GeneticVariation
|
UNIPROT |
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
|
18337304 |
2008 |
|
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 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
CausalMutation
|
CLINVAR |
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
|
12497641 |
2003 |
|
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 |
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 |
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 |
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 |
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
|
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 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.810 |
GeneticVariation
|
UNIPROT |
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 |
CausalMutation
|
CLINVAR |
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 |
Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.
|
10545037 |
1999 |
|
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 |