×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
18639457
2008
×
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
Biomarker
disease
CTD_human
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
CLINVAR
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.
14523375
2004
×
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
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
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
14652796
2004
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
UNIPROT
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
12666124
2003
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
CLINVAR
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
15060126
2004
×
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
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
GeneticVariation
disease
UNIPROT
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
14647208
2003
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
GeneticVariation
disease
CLINVAR
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
16634037
2006
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
14647208
2003
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.
18671187
2008
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
CausalMutation
disease
CLINVAR
Diagnosis and etiology of congenital muscular dystrophy.
18160674
2008
×
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
Biomarker
disease
BEFREE
Immunolabelling of FKRP in the muscle of MDC1C and LGMD2I patients was found to be indistinguishable from normal controls.
16055117
2005
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.950
Biomarker
disease
GENOMICS_ENGLAND
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.
11053680
2000
×
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
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
16476814
2006
×
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
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
GeneticVariation
disease
CLINVAR
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
14647208
2003