×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
11835375 2002
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
11835375 2002
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.
18422810 2008
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
11438991 2001
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
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: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
7693129 1993
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
7693129 1993
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
12207932 2002
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.
8844219 1996
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.
8835320 1995
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Clinical and genetic analysis of CMT1B in a Nigerian family.
12707985 2003
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
19293842 2009
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
8816708 1996
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
8816708 1996
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.
25694466 2015
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation.
12221176 2002
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.
23250879 2012
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
9168174 1997
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B .
7693130 1993
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
Biomarker
BEFREE
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B .
7693130 1993
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
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
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
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
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.
24053775 2013
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
18337304 2008
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
CausalMutation
CLINVAR
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
18337304 2008