|
Dejerine-Sottas Disease (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
This patient is presently less affected compared to previously described Dejerine-Sottas neuropathy (DSN) patients carrying another substitution at codon 359 (Arg359Trp, R359W).
|
16198564 |
2005 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ), or the gap junction protein beta1 gene (GJB1) and identified two DSN patients with the heterozygous mutation R359W in the alpha-helix domain of the first zinc-finger of EGR2.
|
11523566 |
2001 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
A de novo missense mutation (Arg359Trp) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS.
|
10371530 |
1999 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
A de novo missense mutation (Arg359Trp) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS.
|
10371530 |
1999 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
|
|
|
|
Charcot-Marie-Tooth disease, Type 1D (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
|
15947997 |
2005 |
|
Charcot-Marie-Tooth disease, Type 1D (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
|
15241803 |
2004 |
|
Charcot-Marie-Tooth disease, Type 1D (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.
|
12736090 |
2003 |
|
Charcot-Marie-Tooth disease, Type 1D (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.
|
11239949 |
2001 |
|
Charcot-Marie-Tooth disease, Type 1D (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
|
10762521 |
2000 |
|
Charcot-Marie-Tooth disease, Type 1D (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
|
10502832 |
1999 |
|
Charcot-Marie-Tooth disease, Type 1D (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
|
9537424 |
1998 |
|
Charcot-Marie-Tooth disease, Type 1D (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.
|
27159987 |
2016 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
|
17717711 |
2007 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
|
15947997 |
2005 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
|
16198564 |
2005 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
|
11523566 |
2001 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
|
10371530 |
1999 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
|
10369870 |
1999 |
|
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Charcot-Marie-Tooth Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
|
15947997 |
2005 |
|
Abnormality of the cranial nerves
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, in contrast to patients with typical DSN, patients with the EGR2 R359W mutation have more respiratory compromise and cranial nerve involvement.
|
11523566 |
2001 |