|
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 |
|
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 |
|
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
|
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
|
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
|
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
|
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
|
27527004 |
2016 |
|
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
|
27147698 |
2016 |
|
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
|
27147698 |
2016 |
|
rs1565930588
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
|
26976520 |
2016 |
|
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 |
|
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
|
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
|
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
|
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
|
rs368970223
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |
|
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Expanding the phenotype of GMPPB mutations.
|
25681410 |
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 |
|
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
|
23768512 |
2013 |