CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
|
15122254 |
2004 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases.
|
25965061 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the small heat shock protein HSPB1 (HSP27) are a cause of axonal Charcot-Marie-Tooth neuropathy (CMT2F) and distal hereditary motor neuropathy.
|
23728742 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.
|
28595321 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
|
22176143 |
2011 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.
|
23643870 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
|
25547330 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy.
|
23948568 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
|
15122254 |
2004 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
|
28144995 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
Biomarker
|
disease |
BEFREE |
Mutations in the small heat shock protein HSPB1 (HSP27) are a cause of axonal Charcot-Marie-Tooth neuropathy (CMT2F) and distal hereditary motor neuropathy.
|
23728742 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
|
21892769 |
2012 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.
|
28702508 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
One variant of CMT, 2F, is characterized by mutations in heat shock protein 27 (Hsp27).
|
29133339 |
2018 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in both the small heat shock protein 27 (HSP27 or HSPB1) and 22 (HSP22 or HSPB8) genes have been reported to cause autosomal dominant CMT with minimal sensory involvement (CMT 2F/CMT2L) and autosomal dominant distal hereditary motor neuropathy type II (dHMN II).
|
18832141 |
2008 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.
|
27816334 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
|
26989944 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
|
26989944 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease.
|
21611841 |
2012 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.
|
20870250 |
2010 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1) have been reported in association with Charcot-Marie-Tooth disease type 2F or dHMN type II.
|
20870250 |
2010 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
|
23963299 |
2014 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
|
25547330 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
|
22176143 |
2011 |