rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.830
CausalMutation
CLINVAR
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
18639457
2008
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
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
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
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
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.830
CausalMutation
CLINVAR
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
23591631
2013
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
0.830
GeneticVariation
UNIPROT
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
23800702
2013
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
0.830
CausalMutation
CLINVAR
Mutations alter secretion of fukutin-related protein.
19900540
2010
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
A
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
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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
rs28937900
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
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