×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
Biomarker
disease
MGD
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.
30239779
2019
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.
29670817
2018
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing.
27639257
2017
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
27088055
2016
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
GeneticVariation
disease
BEFREE
MPZ mutations are the second leading cause of Charcot-Marie-Tooth disease type 1 .
26310628
2015
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
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
0.700
GeneticVariation
disease
CLINVAR
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
26310628
2015
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
26310628
2015
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.
26454100
2015
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation.
26234237
2015
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
GeneticVariation
disease
CLINVAR
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
25429913
2014
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
25614874
2014
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients.
23649551
2014
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
24819634
2014
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
25429913
2014
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Two novel MPZ mutations in Chinese CMT patients.
24028194
2013
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.
23290023
2013
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
Biomarker
disease
MGD
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
22689911
2012
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
22689911
2012
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.
23279346
2012
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.
22451207
2012
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.
21504504
2011
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
GeneticVariation
disease
CLINVAR
[Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene].
22433810
2011
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
GeneticVariation
disease
CLINVAR
Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
22176150
2011
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.700
CausalMutation
disease
CLINVAR
[Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene].
22433810
2011