rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
GeneticVariation
BEFREE
Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B ) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ.
30785048
2019
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
A
0.820
CausalMutation
CLINVAR
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
22689911
2012
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
A
0.820
CausalMutation
CLINVAR
R98C mice, an authentic model of early onset Charcot-Marie-Tooth disease type 1B , develop neuropathy in part because the misfolded mutant myelin protein zero is retained in the endoplasmic reticulum where it activates the unfolded protein response.
23250879
2012
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
A
0.820
CausalMutation
CLINVAR
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
21840889
2011
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
A
0.820
CausalMutation
CLINVAR
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.
20461396
2010
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
A
0.820
CausalMutation
CLINVAR
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
19293842
2009
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
GeneticVariation
UNIPROT
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
18337304
2008
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
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
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
A
0.820
CausalMutation
CLINVAR
To evaluate sural nerve biopsy samples from a patient with early-onset Charcot-Marie-Tooth disease type 1B caused by an arg69-to-cys (R69C ) mutation.
17172621
2006
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
A
0.820
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
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
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
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
GeneticVariation
UNIPROT
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
12402337
2002
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
GeneticVariation
UNIPROT
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
12207932
2002
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
A
0.820
CausalMutation
CLINVAR
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
11438991
2001
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
GeneticVariation
UNIPROT
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
10965800
2000
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
GeneticVariation
UNIPROT
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
10737979
2000
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
GeneticVariation
UNIPROT
Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.
10545037
1999
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
GeneticVariation
UNIPROT
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
9452099
1998
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
GeneticVariation
UNIPROT
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
9452091
1998
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
A
0.820
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
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
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
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
A
0.820
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
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
GeneticVariation
UNIPROT
Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B.
9217235
1997
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
A
0.820
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
rs121913590
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
0.820
GeneticVariation
BEFREE
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