|
rs757082154
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs760768093
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs769561386
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs770905160
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs778768583
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs780302064
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs781565158
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs797045898
|
|
TCA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80338800
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs886039785
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs886042108
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1457591395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we show that a missense mutation (arginine 440 to glutamine) in WWP1-which is known to cause muscular dystrophy in chickens-increases the ubiquitin ligase-mediated ubiquitination of both β-dystroglycan and WWP1.
|
29635000 |
2018 |
|
rs747064211
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we show that a missense mutation (arginine 440 to glutamine) in WWP1-which is known to cause muscular dystrophy in chickens-increases the ubiquitin ligase-mediated ubiquitination of both β-dystroglycan and WWP1.
|
29635000 |
2018 |
|
rs760251358
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we show that a missense mutation (arginine 440 to glutamine) in WWP1-which is known to cause muscular dystrophy in chickens-increases the ubiquitin ligase-mediated ubiquitination of both β-dystroglycan and WWP1.
|
29635000 |
2018 |
|
rs369758958
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On this line, we suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family.
|
29073160 |
2017 |
|
rs869025337
|
|
|
0.010 |
GeneticVariation |
BEFREE |
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
|
26642364 |
2016 |
|
rs367543077
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* was identical to a B3GALNT2 mutation identified in a human case of muscular dystrophy-dystroglycanopathy with hydrocephalus.
|
26452345 |
2015 |
|
rs548397345
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SMCHD1 c.1040+1G>A, a pathogenic splice-site variant, was identified in a FSHD1 family with a borderline number of D4Z4 repeats (10) and a variable phenotype (in which a LMNA1 sequence variant was previously described), and SMCHD1 c.2606 G>T, a putative missense variant (p.Gly869Val) with strong in vitro indications of pathogenicity, was identified in a family with an unusual muscular dystrophy with some FSHD-like features.
|
24755953 |
2015 |
|
rs975757101
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping.
|
24239059 |
2014 |
|
rs121909518
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified causative mutations in desmin (IVS3+3A>G) and filamin C (p.W2710X), and augmented the phenotype data for individuals with muscular dystrophy due to these mutations.
|
23155419 |
2012 |
|
rs199474724
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The cross-referencing of these mutations in candidate genes for muscular dystrophy showed a homozygote mutation c.G674A in exon 4 of LMNA causing a protein change R225Q in an arginine conserved from human to Xenopus tropicalis and in lamin B1.
|
22431096 |
2012 |
|
rs116840805
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal muscle specifically alters the Ca(2+) channel function of the dihydropyridine receptor.
|
18509671 |
2008 |
|
rs1800553
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.
|
18024811 |
2007 |
|
rs121908457
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies.
|
16684602 |
2006 |
|
rs121908458
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies.
|
16684602 |
2006 |