Dejerine-Sottas Disease (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Dejerine-Sottas neuropathy and Charcot-Marie-Tooth type 4F (CMT4F) are the two different clinical phenotypes observed in association with <i>PRX</i> gene mutation.
|
31523542 |
2019 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
The use of whole-exome sequencing to disentangle complex phenotypes.
|
26059842 |
2016 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Through the use of whole-exome sequencing we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present.
|
26059842 |
2016 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
|
24078732 |
2013 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
|
22847150 |
2012 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
Biomarker
|
disease |
BEFREE |
PRX mutations usually lead to early-onset, autosomal-recessive demyelinating CMT neuropathy 4F (CMT4F) or Dejerine-Sottas disease; their clinical phenotypes are severe.
|
22847150 |
2012 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Four novel cases of periaxin-related neuropathy and review of the literature.
|
21079185 |
2010 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Four novel cases of periaxin-related neuropathy and review of the literature.
|
21079185 |
2010 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
To date, 10 non-sense or frameshift PRX mutations have been reported in patients with early-onset neuropathy and further disease course consistent with either Dejerine-Sottas neuropathy or slow-progressive demyelinating CMT.
|
18410371 |
2008 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
To date, seven non-sense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or severe Charcot-Marie-Tooth neuropathy (CMT).
|
15197604 |
2004 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
|
15197604 |
2004 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
|
15197604 |
2004 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have demonstrated that apparent loss-of-function mutations in the periaxin gene cause autosomal recessive Dejerine-Sottas neuropathy or severe demyelinating Charcot-Marie-Tooth disease.
|
12112076 |
2002 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
The function of the Periaxin gene during nerve repair in a model of CMT4F.
|
12090399 |
2002 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
In the field of the peripheral neuropathies we present data on a newly described autosomal recessive Charcot-Marie-Tooth disease (CMT4F) with mutations in the periaxin gene.
|
12094560 |
2002 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
|
11133365 |
2001 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
|
11157804 |
2001 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
|
11133365 |
2001 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
|
11133365 |
2001 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.
|
10848494 |
2000 |
Dejerine-Sottas Disease (disorder)
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Dejerine-Sottas Disease (disorder)
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Dejerine-Sottas Disease (disorder)
|
0.780 |
Biomarker
|
disease |
CTD_human |
|
|
|