×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
Biomarker
BEFREE
PMP22 -Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1 .25522693 2015
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
CausalMutation
CLINVAR
Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.
26102530 2015
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
GeneticVariation
CLINVAR
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
25614874 2014
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
CausalMutation
CLINVAR
Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease.
25385046 2014
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
GeneticVariation
CLINVAR
The PMP22 gene and its related diseases.
23224996 2013
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
CausalMutation
CLINVAR
Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis.
23965407 2013
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
CausalMutation
CLINVAR
Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E).
23689413 2013
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
CausalMutation
CLINVAR
Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease.
21827951 2011
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
CausalMutation
CLINVAR
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
21252112 2011
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
GeneticVariation
BEFREE
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1 .
20739940 2010
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
CausalMutation
CLINVAR
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.
21149811 2010
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
GeneticVariation
BEFREE
Long-term follow-up studies in Charcot-Marie-Tooth disease type 1 duplication (CMT1A ) are scanty.
20443018 2010
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
Biomarker
CTD_human
Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.
19427269 2009
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
CausalMutation
CLINVAR
The peripheral neuropathy-linked Trembler and Trembler-J mutant forms of peripheral myelin protein 22 are folding-destabilized.
18795802 2008
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
Biomarker
CTD_human
Myoclonic seizures in a patient with Charcot-Marie-tooth disease.
17275665 2007
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
Biomarker
CTD_human
Ascorbic acid inhibits PMP22 expression by reducing cAMP levels.
17303424 2007
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
GeneticVariation
BEFREE
Of these, 58% demonstrated scoliosis, 31% had kyphoscoliosis, and 11% had thoracic hyperkyphosis; 73% of patients with spinal deformity were classified as HMSN Type I with confirmed duplication of the PMP 22 (peripheral myelin protein) gene on chromosome 17.
18090092 2007
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
GeneticVariation
BEFREE
The CMT1A duplication was detected in 62.5% (20/32) CMT1 patients.
16912585 2006
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
GeneticVariation
BEFREE
This study expands the number of CMT1 associated MPZ mutation and suggests that analysis of the coding sequence of MPZ should be performed in all CMT patients without CMT1A duplication to clarify their disease nature.
15050444 2004
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
GeneticVariation
BEFREE
A 1.4-Mb tandem duplication, including the gene for peripheral myelin protein 22 (PMP22 ) in chromosome 17p11.2-12 is responsible for 70% of the cases of the demyelinating type 1 of Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy I (CMT1A /HMSN I).
12634865 2003
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
CausalMutation
CLINVAR
Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A.
12090404 2002
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
CausalMutation
CLINVAR
Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.
11314784 2001
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
GeneticVariation
BEFREE
Similarities are drawn with the peripheral neuropathies Charcot-Marie-Tooth disease Type 1 (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) that are also caused by dosage effects and mutations in a single myelin protein gene (peripheral myelin protein 22 , PMP-22 ).
11535114 2001
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
GeneticVariation
BEFREE
Charcot-Marie-Tooth disease type 1 (CMT1) is a demyelinating peripheral neuropathy most commonly caused by a DNA duplication on chromosome 17p11.2 including the peripheral myelin protein 22 (PMP22 ).11437164 2001
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathy Type I
0.500
GeneticVariation
BEFREE
It is controversial if peripheral myelin protein 22 gene (PMP22 ) Thr118Met represents a functionally irrelevant polymorphism or, since hemizygosity for this variant has been found in two patients with Charcot-Marie-Tooth disease type 1 (CMT1 patients), it can act as a recessive CMT1 mutation.
11081809 2000