×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
Biomarker
CTD_human
High-dose ascorbic acid has been shown to have remyelinating potential and to correct the phenotype of a transgenic mouse model of CMT1A by decreasing expression of PMP22 .
19427269 2009
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
Biomarker
CTD_human
Myoclonic seizures in a patient with Charcot-Marie-tooth disease.
17275665 2007
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
Biomarker
CTD_human
Ascorbic acid inhibits PMP22 expression by reducing cAMP levels.
17303424 2007
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
15205993 2004
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
12497641 2003
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
11835375 2002
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
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: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.
11140841 2000
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
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: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
The most common cause of Charcot-Marie-Tooth neuropathy type 1A (CMT1A ) is a PMP22 gene duplication.
10489052 1999
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
A novel point mutation in the peripheral myelin protein 22 (PMP22 ) gene associated with Charcot-Marie-Tooth disease type 1A .
9040744 1997
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
A novel T-->G mutation in exon 4 of the PMP22 gene was identified heterozygously in a girl with severe, de novo CMT1A disease.
8655153 1996
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
[A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].
8777804 1995
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth disease type 1A : morphological phenotype of the 17p duplication versus PMP22 point mutations.8615087 1995
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
A son heterozygous for the PMP22 point mutation had no signs of neuropathy, while two others heterozygous for the deletion had HNPP, suggesting that point mutations in PMP22 can result in dominant and recessive alleles contributing to CMT1A .
8252046 1993
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
Charcot-Marie-Tooth disease type 1A . Association with a spontaneous point mutation in the PMP22 gene.8510709 1993
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
GeneticVariation
UNIPROT
The presence of this PMP-22 defect in this CMT1A family and the location of PMP-22 within the DNA duplication associated with CMT1A suggest that both structural alteration and overexpression of PMP-22 may lead to the disease.
1303281 1992
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Charcot-Marie-Tooth Disease, Type Ia (disorder)
1.000
Biomarker
GENOMICS_ENGLAND