|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, mutations in SH3TC2 are responsible for 26% of Greek patients with suspected CMT4, identifying CMT4C as the most common recessive demyelinating neuropathy in the Greek population, in accordance with other Mediterranean cohorts.
|
30653784 |
2019 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India.
|
29184351 |
2019 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study identified four CMT4C families with compound heterozygous SH3TC2 mutations from 504 Korean demyelinating or intermediate CMT patients.
|
31227790 |
2019 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
Biomarker
|
disease |
BEFREE |
The aim of this project was to develop a gene replacement therapy for treating Charcot-Marie-Tooth disease type 4C to rescue the phenotype of the Sh3tc2-/- mouse model.
|
30907403 |
2019 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
|
29321516 |
2018 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In our series of undiagnosed CMT4 patients, SH3TC2 mutation frequency is 30%, confirming that CMT4C may be the most common AR-CMT type.
|
27231023 |
2016 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
|
26752306 |
2016 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our study therefore highlights the inherent evolutionary link between SH3TC2 and peripheral nerve myelination, pointing also towards a molecular mechanism underlying the specific demyelinating neuropathy that characterizes CMT4C.
|
27068304 |
2016 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
|
27231023 |
2016 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Charcot-Marie-Tooth disease type 4C in Japan: report of a case.
|
23281072 |
2013 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
|
22978647 |
2013 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A genetic screen detected a homozygous p.R529Q mutation in SH3TC2, the causative gene of CMT4C.
|
23281072 |
2013 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation c.279G → A was detected on one allele in two unrelated families with CMT4C in combination with a known pathogenic mutation (c.2860 C →T in one family, c.505T → C in the other) on the second allele of SH3TC2 gene.
|
22950825 |
2012 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
|
22462672 |
2012 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The generated Sh3tc2 knockout mice thus present a reliable model of CMT4C neuropathy that was instrumental in establishing a role for Sh3tc2 in myelination and in the integrity of the node of Ranvier, a morphological phenotype that can be used as an additional CMT4C diagnostic marker.
|
19805030 |
2009 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
Biomarker
|
disease |
BEFREE |
The generated Sh3tc2 knockout mice thus present a reliable model of CMT4C neuropathy that was instrumental in establishing a role for Sh3tc2 in myelination and in the integrity of the node of Ranvier, a morphological phenotype that can be used as an additional CMT4C diagnostic marker.
|
19805030 |
2009 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
Biomarker
|
disease |
MGD |
The generated Sh3tc2 knockout mice thus present a reliable model of CMT4C neuropathy that was instrumental in establishing a role for Sh3tc2 in myelination and in the integrity of the node of Ranvier, a morphological phenotype that can be used as an additional CMT4C diagnostic marker.
|
19805030 |
2009 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
|
19744956 |
2009 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.
|
19272779 |
2009 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
|
17470135 |
2007 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.
|
16806930 |
2006 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.
|
16806930 |
2006 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
|
16326826 |
2005 |