|
rs28937900
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.830 |
CausalMutation
|
CLINVAR |
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
|
23591631 |
2013 |
|
rs28937900
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.830 |
CausalMutation
|
CLINVAR |
Mutations alter secretion of fukutin-related protein.
|
19900540 |
2010 |
|
rs28937900
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.830 |
CausalMutation
|
CLINVAR |
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
|
18639457 |
2008 |
|
rs28937900
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.830 |
CausalMutation
|
CLINVAR |
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
|
15580560 |
2005 |
|
rs28937900
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.830 |
CausalMutation
|
CLINVAR |
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
|
15574464 |
2005 |
|
rs28937900
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.830 |
CausalMutation
|
CLINVAR |
Patients with the C826A change had the clinically less severe LGMD2I phenotype, suggesting that this is a less disruptive FKRP mutation than those found in MDC1C.
|
11741828 |
2001 |
|
rs104894681
|
|
MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs104894684
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
|
rs104894691
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
|
16476814 |
2006 |
|
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 |
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
|
12666124 |
2003 |
|
rs104894692
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894692
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
A |
0.800 |
CausalMutation
|
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 |
|
rs28937905
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs398124395
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
|
20623375 |
2010 |
|
rs543163491
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Interestingly, the c.545A>G mutation was found in eight of the nine LGMD2I patients as a founder mutation and this founder mutation in Chinese patients differs from the one seen in European patients.
|
27439679 |
2016 |
|
rs543163491
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
G |
0.800 |
CausalMutation
|
CLINVAR |
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
|
25987458 |
2015 |