×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
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
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.
28629604
2017
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
28454995
2017
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.
27439679
2016
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
Biomarker
disease
GENOMICS_ENGLAND
Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.
27421908
2016
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.
26320847
2016
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
CLINVAR
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.
27439679
2016
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
25987458
2015
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
CLINVAR
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
26436962
2015
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
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
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.
23420653
2014
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
UNIPROT
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
23800702
2013
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
23800702
2013
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
23894383
2013
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
23591631
2013
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
CLINVAR
Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.
24139536
2013
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
CLINVAR
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.
20961759
2011
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
Biomarker
disease
MGD
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
20675713
2010
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Zebrafish models for human FKRP muscular dystrophies.
19955119
2010
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
20623375
2010
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Mutations alter secretion of fukutin-related protein.
19900540
2010
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
CLINVAR
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
19155270
2009
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
CLINVAR
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
19299310
2009
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
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