×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Molecular and clinical features of inherited neuropathies due to PMP22 duplication.
26076881
2015
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.
24726093
2014
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
24646194
2014
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation.
24534835
2014
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.
24668782
2014
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.
23781966
2013
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
The PMP22 gene and its related diseases.
23224996
2013
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
21840889
2011
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.
18592125
2008
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.
18698610
2008
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
11835375
2002
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.
12439896
2002
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
11523566
2001
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
10369870
1999
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
10211478
1999
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.
9543325
1998
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
9004143
1996
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
7728152
1995
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
8275092
1993
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
CausalMutation
CLINVAR
[The reflexotherapy of patients with respiratory allergoses].
1523566
1992
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Muscle hypotonia
0.100
Biomarker
HPO