|
| 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 |
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 |
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
|
28414270 |
2017 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.
|
28063088 |
2017 |
|
| 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 |
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
|
26378787 |
2016 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.
|
26801520 |
2016 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
|
26989944 |
2016 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Rapidly Progressive Polyneuropathy in a Patient With Monoclonal Gammopathy: A Case Report of POEMS Syndrome and Beyond.
|
27100445 |
2016 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
|
27549087 |
2016 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.
|
26686600 |
2016 |
|
| 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 |
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 |
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 |
A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A.
|
26382835 |
2015 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
|
25802885 |
2015 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
|
26085578 |
2015 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.
|
24863639 |
2015 |
|
| 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 |
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 |
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 |
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 |
CausalMutation |
CLINVAR |
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
|
24957169 |
2014 |