rs104894692
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800
GeneticVariation
UNIPROT
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
12666124
2003
rs104894692
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800
GeneticVariation
UNIPROT
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
14647208
2003
rs104894692
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800
GeneticVariation
UNIPROT
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
23800702
2013
rs104894692
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800
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
rs104894692
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.800
CausalMutation
CLINVAR
rs104894692
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800
GeneticVariation
UNIPROT
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
11741828
2001
rs104894692
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.800
GeneticVariation
UNIPROT
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.
14523375
2004