×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
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
0.110
GeneticVariation
phenotype
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
0.110
GeneticVariation
phenotype
CLINVAR
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
21840889
2011
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
CLINVAR
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
19293842
2009
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
LHGDN
Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.
17825553
2008
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
CLINVAR
Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.
17663472
2007
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
CLINVAR
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
15004559
2004
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
CLINVAR
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
14638973
2003
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
CLINVAR
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
11835375
2002
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
CLINVAR
"Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met."
10764043
2000
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
CLINVAR
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
11080237
2000
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
CLINVAR
The Roussy-Lévy family: from the original description to the gene.
10553995
1999
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
CLINVAR
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
10406984
1999
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
CLINVAR
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
10071056
1999
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
GeneticVariation
phenotype
CLINVAR
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
9595994
1998
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.110
Biomarker
phenotype
HPO