×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
24604904
2014
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
GeneticVariation
CLINVAR
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.
18957892
2008
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Acute optic neuropathy associated with a novel MFN2 mutation.
25957633
2015
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
GeneticVariation
CLINVAR
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.
16043786
2005
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations.
17296794
2007
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
GeneticVariation
CLINVAR
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
15064763
2004
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
25448007
2015
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
GeneticVariation
CLINVAR
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
21715711
2011
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
24126688
2013
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
26114802
2015
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
26307494
2015
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.
21326314
2011
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
25614874
2014
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
16762064
2006
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.
27862672
2017
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
24819634
2014
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
GeneticVariation
CLINVAR
Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
26955893
2016
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
21508331
2011
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
GeneticVariation
CLINVAR
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
16714318
2006
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Genetic heterogeneity of motor neuropathies.
28251916
2017
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.
24862862
2014
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
GeneticVariation
CLINVAR
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
24078732
2013
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
GeneticVariation
CLINVAR
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
21508331
2011
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
16714318
2006
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary Motor and Sensory-Neuropathy Type II
0.200
CausalMutation
CLINVAR
Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI.
21707411
2011