Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
|
30649465 |
2019 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
MFN2 encodes mitofusin-2, a mitochondrial fusion protein previously involved in Charcot-Marie-Tooth neuropathy.
|
30158064 |
2019 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.
|
30442897 |
2018 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
CMT2A, the axonal form, accounts for about one third of all CMT cases.
|
29361379 |
2018 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The phenotype caused by the MFN2 mutation in these cases is very mild, considering that the mutation causes middle-aged-onset Charcot-Marie-Tooth even in the homozygous state.
|
29215088 |
2018 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
As the second most common causative gene of CMT type 2 after MFN2, MORC2 variants were detected in 2.7% of patients with CMT type 2.
|
28771897 |
2017 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
MFN2 is the major gene involved in the axonal form of Charcot-Marie-Tooth disease.
|
28215760 |
2017 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MFN2 mutations are the most common cause of axonal CMT.
|
28660751 |
2017 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Six novel CMT-associated gene mutations including BSCL2 (c.461C>T), LITAF (c.32C>G), MFN2 (c.497C>T), GARS (c.794C>T), NEFL (c.280C>T), and MPZ (c.440T>C) were discovered.
|
27862672 |
2017 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
It has recently been reported that allelic variability in the Charcot-Marie-Tooth disease (CMT) genes, mitofusin 2 (MFN2), Rho guanine nucleotide exchange factor 10 (ARHGEF10), and periaxin (PRX), affected paclitaxel-induced peripheral neuropathy in clinical cases.
|
28587902 |
2017 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth type 2A disease (CMT2A) is an inherited peripheral neuropathy mainly caused by mutations in the MFN2 gene coding for the mitochondrial fusion protein mitofusin 2.
|
27706887 |
2016 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth disease 2A (CMT2A), caused by mutations in the mitofusin 2 gene (MFN2), is the most common CMT2 subtype.
|
26801520 |
2016 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with early onset severe axonal Charcot-Marie-Tooth disease (CMT2) with dominant inheritance, in whom Sanger sequencing failed to detect a mutation in the mitofusin 2 (MFN2) gene because of a single nucleotide polymorphism (rs2236057) under the PCR primer sequence.
|
26916081 |
2016 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth 2A (CMT2A) is an inherited peripheral neuropathy caused by mutations in MFN2, which encodes a mitochondrial membrane protein involved in mitochondrial network homeostasis.
|
27506976 |
2016 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our patient with MFN2-related CMT2 expands the clinical and mutational spectrum of individuals with autosomal recessive CMT2 and identifies a new clinical feature that warrants further observation.
|
26955893 |
2016 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In previous studies, MFN2 mutations have been linked to neurological disorders including CMT type 2 (CMT2).
|
26956144 |
2016 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6).
|
26556829 |
2016 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
It was initially identified as a hyperplasia suppressor and implicated in Charcot-Marie-Tooth disease.
|
25796500 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mitofusin-2 (MFN2) mutations are the most common cause of autosomal dominant axonal Charcot-Marie-Tooth disease (CMT, type 2A), sometimes complicated by additional features such as optic atrophy (CMT6) and upper motor neuron involvement (CMT5).
|
26306937 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.
|
24863639 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, mutations in MFN2 have been shown to be responsible for Hereditary Motor Sensory Neuropathy type VI (HSMN VI), a rare early-onset axonal CMT associated with optic neuropathy.
|
25957633 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CMT2A is an axonal autosomal dominant CMT type which in most cases is characterized by early onset and rather severe course.
|
25847151 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
iPSC lines from patients with two distinct forms of axonal CMT (CMT2A and CMT2E) were differentiated into spinal cord motor neurons and used to study axonal structure and function and electrophysiological properties in vitro.
|
25448007 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mitofusin 2 (MFN2) mutations are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2).
|
26114802 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of mitofusin 2 (MFN2) have been recognized to be associated with CMT type 2A (CMT2A).
|
26307494 |
2015 |