×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
Biomarker
CTD_human
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
10737979 2000
×
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
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
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
15036333 2004
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.
10214757 1999
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
12402337 2002
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Novel mutation of the myelin P0 gene in a CMT1B family.
8990016 1997
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
8797476 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
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
12497641 2003
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth disease type 1B (CMT 1B) is caused by mutations in the gene coding for peripheral myelin protein zero (MPZ , P0) that plays a fundamental role in adhesion and compaction of peripheral myelin.12845552 2003
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
9452099 1998
×
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
GeneticVariation
UNIPROT
A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.
11445635 2001
×
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
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
7530774 1994
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
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
×
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
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
GeneticVariation
UNIPROT
Phenotypic clustering in MPZ mutations.
14711881 2004
×
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
GeneticVariation
UNIPROT
The same MPZ locus cosegregates with the CMT1B disease gene in a second CMT1B family [total multipoint logarithm of odds (lod) = 11.4 at theta = 0.00] with a splice junction mutation.
7504284 1993
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B.
9217235 1997
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000
GeneticVariation
UNIPROT
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