|
rs119467003
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Spinocerebellar ataxia with axonal neuropathy (SCAN 1) is an autosomal recessive disorder caused by a specific point mutation (c.1478A>G, p.H493R) in the tyrosyl-DNA phosphodiesterase (TDP1) gene.
|
20687496 |
2010 |
|
rs119467003
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The H493R mutation of Tdp1 causes the neurodegenerative disorder spinocerebellar ataxia with axonal neuropathy (SCAN1).
|
17948061 |
2007 |
|
rs119467003
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Hereditary spinocerebellar ataxia with axonal neuropathy (SCAN1) is caused by an inactivating mutation (H493R) in the enzyme tyrosyl-DNA phosphodiesterase (Tdp1), which removes blocked 3'-termini at DNA strand breaks.
|
16935573 |
2006 |
|
rs119467003
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The inherited disorder, spinocerebellar ataxia with axonal neuropathy (SCAN1), is caused by a H493R mutation in Tdp1.
|
15920477 |
2005 |
|
rs1060501920
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy with variable clinical severity in a multigenerational family.
|
30642740 |
2019 |
|
rs771096255
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy with variable clinical severity in a multigenerational family.
|
30642740 |
2019 |
|
rs797045050
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified by exome sequencing a de novo dominant missense variant, (c.38G>A, p.R13H), within an ATP binding site of the kinesin motor domain in a patient manifesting a complex phenotype characterized by autism spectrum disorder (ASD), spastic paraplegia and axonal neuropathy.
|
28834584 |
2017 |
|
rs397515323
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical, neuroimaging, and electrophysiological findings from a second CMTX6 family with the p.R158H PDK3 mutation were similar to the axonal neuropathy reported in the Australian family.
|
26801680 |
2016 |
|
rs730880031
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data demonstrate that even within the same family, the p.Gly66Val variant can cause variable phenotypes ranging from CMT2-type axonal neuropathy to spinal muscular atrophy, which may also present as an ALS-like disease.
|
26224640 |
2016 |
|
rs765672269
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data demonstrate that even within the same family, the p.Gly66Val variant can cause variable phenotypes ranging from CMT2-type axonal neuropathy to spinal muscular atrophy, which may also present as an ALS-like disease.
|
26224640 |
2016 |
|
rs776404901
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on a 7-month-old white female with hypotonia, motor delay, distal weakness, and motor/sensory axonal neuropathy in which next-generation sequencing analysis identified compound heterozygous pathogenic variants (c.2054_2069_1170del and c.392A>G) in MFN2.
|
26955893 |
2016 |
|
rs397515432
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In spite of the nature of Gly327Asp mutation (missense), the CMT phenotype associated with this variant may be characterized as an early onset, severe axonal neuropathy, with severe skeletal deformities.
|
21365284 |
2011 |
|
rs749165928
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel R159C mutation represents a very rare case of a dominant PMP22 mutation causing an axonal neuropathy.
|
21337347 |
2011 |
|
rs121918312
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied three families with BAG3 p.Pro209Leu mutation showing a severe phenotype of myofibrillar myopathy and axonal neuropathy with giant axons.
|
20605452 |
2010 |
|
rs121918551
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.
|
18628786 |
2008 |
|
rs121913605
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The N60H caused axonal CMT in a large family, whereas the I62M occurred in a single patient presenting with a primary axonal neuropathy.
|
14638973 |
2003 |