|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
|
30345904 |
2018 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
GeneticVariation
|
BEFREE |
Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C>A) in the fukutin-related protein (FKRP) gene were recruited.
|
24587344 |
2014 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
CausalMutation
|
CLINVAR |
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
|
23591631 |
2013 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
|
23800702 |
2013 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
CausalMutation
|
CLINVAR |
Mutations alter secretion of fukutin-related protein.
|
19900540 |
2010 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
CausalMutation
|
CLINVAR |
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
|
18639457 |
2008 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.
|
14523375 |
2004 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
|
14647208 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Patients with LGMD2I shared a common mutation (C826A,Leu276Ileu) and their phenotypic severity was correlated with the second allelic mutation.
|
12666124 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
GeneticVariation
|
BEFREE |
Patients with LGMD2I shared a common mutation (C826A,Leu276Ileu) and their phenotypic severity was correlated with the second allelic mutation.
|
12666124 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
GeneticVariation
|
BEFREE |
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.830 |
GeneticVariation
|
UNIPROT |
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 |
|
Muscular Dystrophies, Limb-Girdle
|
|
0.730 |
GeneticVariation
|
BEFREE |
Patients with a common L276I FKRP mutation have mild adult-onset muscle degeneration known as limb-girdle muscular dystrophy 2I (LGMD2I), whereas patients with more C-terminal pathogenic mutations develop the severe Walker-Warburg syndrome (WWS)/muscle-eye-brain (MEB) disease.
|
30232282 |
2018 |
|
Muscular Dystrophies, Limb-Girdle
|
|
0.730 |
CausalMutation
|
CLINVAR |
An irish case of limb-girdle muscular dystrophy 2I with structural eye involvement.
|
26833294 |
2016 |
|
Muscular Dystrophies, Limb-Girdle
|
|
0.730 |
CausalMutation
|
CLINVAR |
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations.
|
26363967 |
2015 |
|
Muscular Dystrophies, Limb-Girdle
|
|
0.730 |
GeneticVariation
|
BEFREE |
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 |
|
Muscular Dystrophies, Limb-Girdle
|
|
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 |
|
Muscular Dystrophies, Limb-Girdle
|
|
0.730 |
CausalMutation
|
CLINVAR |
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy.
|
25560911 |
2015 |
|
Muscular Dystrophies, Limb-Girdle
|
|
0.730 |
CausalMutation
|
CLINVAR |
Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.
|
24447024 |
2014 |
|
Muscular Dystrophies, Limb-Girdle
|
|
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 |
|
Muscular Dystrophies, Limb-Girdle
|
|
0.730 |
CausalMutation
|
CLINVAR |
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
|
23591631 |
2013 |
|
Muscular Dystrophies, Limb-Girdle
|
|
0.730 |
CausalMutation
|
CLINVAR |
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.
|
23576288 |
2013 |