|
rs768606230
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
|
12666124 |
2003 |
|
rs768606230
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
|
16634037 |
2006 |
|
rs768606230
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.
|
16344347 |
2005 |
|
rs543163491
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs28937905
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.
|
14523375 |
2004 |
|
rs104894692
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
|
19155270 |
2009 |
|
rs104894692
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
|
18639457 |
2008 |
|
rs104894692
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
|
16634037 |
2006 |
|
rs104894692
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
|
12666124 |
2003 |
|
rs104894692
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
|
15060126 |
2004 |
|
rs104894692
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
|
16476814 |
2006 |
|
rs104894691
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.
|
20961759 |
2011 |
|
rs104894691
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
|
15060126 |
2004 |
|
rs104894691
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
|
14647208 |
2003 |
|
rs104894681
|
|
MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs886044183
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs886044183
|
|
Walker-Warburg congenital muscular dystrophy
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs886043706
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs886041004
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs770711331
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
|
18691338 |
2009 |
|
rs770711331
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.
|
17446099 |
2007 |
|
rs770711331
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
|
18639457 |
2008 |
|
rs770711331
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
|
16368217 |
2006 |
|
rs754403441
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
CG |
0.700 |
GeneticVariation
|
CLINVAR |
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
|
26436962 |
2015 |
|
rs753811189
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|