|
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 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
An irish case of limb-girdle muscular dystrophy 2I with structural eye involvement.
|
26833294 |
2016 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations.
|
26363967 |
2015 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.
|
26574668 |
2015 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy.
|
25560911 |
2015 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.
|
24447024 |
2014 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery.
|
25048216 |
2014 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
|
23591631 |
2013 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.
|
23576288 |
2013 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Cortical heterotopia in LGMD2I.
|
22264518 |
2012 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients.
|
19820980 |
2010 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Mutations alter secretion of fukutin-related protein.
|
19900540 |
2010 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
|
19835634 |
2009 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
|
17554798 |
2007 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments.
|
18593008 |
2006 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
|
16634037 |
2006 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.
|
15833432 |
2005 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
A second LGMD locus, LGMD2I, was identified in chromosome region 19q13.3, and the causative mutation was identified as c.826C>A (L276I), a missense mutation in the FKRP gene.
|
15580560 |
2005 |
|
rs28937900
|
|
Muscular Dystrophies, Limb-Girdle
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
|
15574464 |
2005 |