rs1565930588
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
|
29029362 |
2018 |
rs1565930588
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
|
28501893 |
2017 |
rs1565930588
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
|
26976520 |
2016 |
rs121434591
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal myopathy associated with dysphagia and dysphonia.
|
28029397 |
2017 |
rs121434591
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Sixteen patients from 6 families with late onset distal myopathy associated with the p.S85C MATR3 mutation were characterized.
|
25154462 |
2014 |
rs121913653
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a novel nonsense variant in DSG2 (c.710T > A, p.Leu237Ter) and a reported pathogenic missense variant of distal myopathy in MYH7 (c. 1322C > T, p.Thr441Met) in the proband of an ARVC pedigree.
|
31653443 |
2020 |
rs768941858
|
|
|
0.010 |
GeneticVariation |
BEFREE |
FLNC mutation c.7123G > A, p.V2375I in the immunoglobulin (Ig)-like domain 21 can be associated with distal myopathy with typical MFM features and lower motor neuron syndrome.
|
31421687 |
2019 |
rs869312739
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1.
|
30732915 |
2019 |
rs387906587
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report three patients with a predominantly proximal myopathy due to p.A193T mutation in the actin-binding domain of FLNC, which has so far only been associated with a distal myopathy.
|
27816332 |
2017 |
rs573899913
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative.
|
29073160 |
2017 |
rs751755895
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative.
|
29073160 |
2017 |
rs757082154
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry.
|
28295036 |
2017 |
rs764434631
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative.
|
29073160 |
2017 |
rs116840789
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study suggested that the CAV3 c.136G > A (p.Ala46Thr) mutation can cause MD as well as different phenotypes in different individuals, suggesting that additional unknown loci must affect the disease phenotypes.
|
26947586 |
2016 |
rs121913647
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we attempt to dissect the mechanism(s) by which mutations in the rod region of beta-MyHC can cause a variety of diseases by analyzing two mutations at a single amino acid (R1500P and R1500W) which cause two distinct diseases (Laing-type early-onset distal myopathy and dilated cardiomyopathy, respectively).
|
19854198 |
2010 |
rs150516929
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.
|
20171888 |
2010 |
rs45544633
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we attempt to dissect the mechanism(s) by which mutations in the rod region of beta-MyHC can cause a variety of diseases by analyzing two mutations at a single amino acid (R1500P and R1500W) which cause two distinct diseases (Laing-type early-onset distal myopathy and dilated cardiomyopathy, respectively).
|
19854198 |
2010 |
rs553628577
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we attempt to dissect the mechanism(s) by which mutations in the rod region of beta-MyHC can cause a variety of diseases by analyzing two mutations at a single amino acid (R1500P and R1500W) which cause two distinct diseases (Laing-type early-onset distal myopathy and dilated cardiomyopathy, respectively).
|
19854198 |
2010 |
rs121908458
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Lower limb radiology of distal myopathy due to the S60F myotilin mutation.
|
19590214 |
2009 |
rs121908457
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
|
17698502 |
2008 |
rs121913627
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).
|
17383184 |
2007 |