rs543163491
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
G
0.800
GeneticVariation
CLINVAR
rs543163491
×
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
rs543163491
×
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
rs543163491
×
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
rs543163491
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
G
0.800
CausalMutation
CLINVAR
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
14647208
2003
rs543163491
×
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
rs543163491
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
G
0.800
CausalMutation
CLINVAR
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
18639457
2008
rs543163491
×
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
rs543163491
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
G
0.800
CausalMutation
CLINVAR
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
23800702
2013
rs543163491
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
G
0.800
CausalMutation
CLINVAR
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
25987458
2015
rs543163491
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
G
0.800
CausalMutation
CLINVAR
Interestingly, the c.545A>G mutation was found in eight of the nine LGMD2I patients as a founder mutation and this founder mutation in Chinese patients differs from the one seen in European patients.
27439679
2016
rs543163491
×
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