|
Neuropathy
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Strikingly, when <i>Dnm2</i> was deleted in adult SCs, non-recombined SCs still expressing DNM2 were able to remyelinate fast and efficiently, accompanied by neuropathy remission.
|
30648534 |
2019 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Dominant mutations in DNM2 result in tissue specific diseases affecting peripheral nerves (Charcot-Marie-Tooth neuropathy, CMT) or skeletal muscles (Centronuclear myopathy, CNM).
|
31628461 |
2019 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia and Hereditary Spastic Paraplegia, but red cell abnormalities have not been reported to date.
|
28466468 |
2017 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the dynamin-2 gene (DNM2) cause autosomal dominant centronuclear myopathy (CNM) and dominant intermediate Charcot-Marie-Tooth (CMT) neuropathy type B (CMTDIB).
|
26842864 |
2016 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Despite its ubiquitous expression, mutations of Dyn2 are associated with two tissue-specific congenital disorders: centronuclear myopathy (CNM) and Charcot-Marie-Tooth (CMT) neuropathy.
|
26199319 |
2015 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Dynamin 2 mutations have previously been associated with other phenotypes including two forms of Charcot-Marie-Tooth neuropathy and centronuclear myopathy.
|
26517984 |
2015 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Heterozygous mutations in dynamin 2 (DNM2) have been linked to dominant Charcot-Marie-Tooth neuropathy and centronuclear myopathy.
|
23092955 |
2013 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Different sets of DNM2 mutations are linked to dominant intermediate Charcot-Marie-Tooth neuropathy type B, a motor and sensory neuropathy affecting primarily peripheral nerves, or autosomal-dominant centronuclear myopathy (CNM) presenting with primary damage in skeletal muscles.
|
23813975 |
2013 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In addition to centronuclear myopathy, dynamin 2 is also mutated in a dominant form of Charcot-Marie-Tooth neuropathy.
|
22496665 |
2012 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The large GTPase dynamin 2 is a key player in membrane and cytoskeletal dynamics mutated in centronuclear myopathy (CNM) and Charcot-Marie Tooth (CMT) neuropathy, two discrete dominant neuromuscular disorders affecting skeletal muscle and peripheral nerves respectively.
|
22096584 |
2011 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.
|
22091729 |
2011 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy.
|
20817456 |
2010 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Subtle neuropathic features in some patients suggest an overlap with the DNM2 neuropathy phenotype.
|
20227276 |
2010 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We studied the clinical, haematological, electrophysiological and sural nerve biopsy findings in 34 patients belonging to six unrelated dominant intermediate Charcot-Marie-Tooth neuropathy type B families in whom a dynamin 2 mutation had been identified: Gly358Arg (Spain); Asp551_Glu553del; Lys550fs (North America); Lys558del (Belgium); Lys558Glu (Australia, the Netherlands) and Thr855_Ile856del (Belgium).
|
19502294 |
2009 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with axonal Charcot-Marie-Tooth disease type 2 neuropathy without mutations in more common genes should undergo investigation for DNM2 pleckstrin homology.
|
17636067 |
2007 |