|
Paresis
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
H304R/+ mice displayed distal muscle weakness and loss of motor coordination phenotypes consistent with those of individuals with CMT2.
|
29379136 |
2018 |
|
Optic Atrophy 1
|
0.010 |
Biomarker
|
disease |
BEFREE |
Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively.
|
26168012 |
2015 |
|
Optic Atrophy
|
0.010 |
Biomarker
|
disease |
BEFREE |
The discovery of SLC25A46 strengthens the genetic overlap between optic atrophy and CMT2 while exemplifying a new class of modified solute transporters linked to mitochondrial dynamics.
|
26168012 |
2015 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2).
|
19344920 |
2009 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause Charcot-Marie-Tooth type 2 (CMT2), a severe autosomal recessive form of neuropathy associated with axonal phenotypes.
|
19381883 |
2009 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2).
|
20537790 |
2010 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
CMT is a group of heterogeneous motor and sensory neuropathies divided into demyelinating (CMT1) and axonal forms (CMT2).
|
26989944 |
2016 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Despite a growing body of evidence concerning the gene structures responsible for genetically heterogenous CMT2B and other CMT2 neuropathies, little is known about the in vitro neuropathy model and how CMT2B-associated mutation-caused aberrant neuritogenesis is properly reversed.
|
20645406 |
2010 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Based on electrodiagnostic and morphologic data, the patients were classified as having a CMT2 neuropathy.
|
18826755 |
2009 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations in the equivalent human gene, Kif5A, result in similar problems that cause hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth type 2 (CMT2) distal neuropathies.
|
22714410 |
2012 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".
|
30286783 |
2018 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We suggest that mutation of DGAT2 is the novel underlying cause of an autosomal-dominant axonal CMT2 neuropathy.
|
26786738 |
2016 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Exacerbation of neuropathy after injury and identification of gait alterations in combination with previously described pathology suggests that hNF-L(E397K) mice recapitulate many of clinical signs associated with CMT2.
|
26423936 |
2015 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Charcot-Marie-Tooth neuropathy type II (CMT2) is an axonal neuropathy, also of undetermined cause.
|
7849745 |
1994 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
This review examines the growing number of identified dHMN genes, discusses recent insights into the functions of these genes and possible pathogenic mechanisms, and looks at the increasing overlap between dHMN and the other neuropathies CMT2 and SMA.
|
21902652 |
2011 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Still other mutations cause a neuropathy that presents in adults, with normal nerve conduction velocities, designated as a 'CMT2' form of CMT1B.
|
14711881 |
2004 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention.
|
29449460 |
2018 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Thus, CMT2 neuropathy in this family represents a novel genetic entity that we have designated as CMT2L.
|
15021985 |
2004 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
The CMT2 neuropathy in this family represents a novel genetic entity designated CMT2F.
|
11528513 |
2001 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.010 |
Biomarker
|
disease |
BEFREE |
Screening of the GARS gene is useful in patients with CMT2 with predominant hand involvement and dHMN-V.
|
17663003 |
2007 |
|
Neuromuscular Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Interestingly, mutations in HMN/CMT2 genes may also be responsible for motor neuron disorders or other neuromuscular diseases, suggesting a broad phenotypic spectrum of clinically and genetically related conditions.
|
31167812 |
2019 |
|
Neurodegenerative Disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively.
|
26168012 |
2015 |
|
Neurodegenerative Disorders
|
0.020 |
Biomarker
|
group |
BEFREE |
Charcot-Marie-Tooth disease (CMT) represents a group of neurodegenerative disorders typically characterised by demyelination (CMT1) or distal axon degeneration (CMT2) of motor and sensory neurons.
|
23840650 |
2013 |
|
nervous system disorder
|
0.010 |
GeneticVariation
|
group |
BEFREE |
In previous studies, MFN2 mutations have been linked to neurological disorders including CMT type 2 (CMT2).
|
26956144 |
2016 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Administration of mTRP-2 gene-modified DCs (DC-HR' CmT2) to C57BL/6 mice evoked strong protection against tumor challenge, for which the presence of CD4+ and CD8+ cells during both the priming and challenge phase was essential.
|
11779404 |
2001 |