×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
An irish case of limb-girdle muscular dystrophy 2I with structural eye involvement.
26833294 2016
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy.
25560911 2015
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.
26574668 2015
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations.
26363967 2015
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery.
25048216 2014
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.
24447024 2014
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.
23576288 2013
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
23591631 2013
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Cortical heterotopia in LGMD2I.
22264518 2012
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
21228398 2011
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients.
19820980 2010
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Mutations alter secretion of fukutin-related protein.
19900540 2010
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
19835634 2009
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
17554798 2007
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
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
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments.
18593008 2006
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
15574464 2005
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.
15833432 2005
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
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
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
15060126 2004
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
12666124 2003
×
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Muscular Dystrophies, Limb-Girdle
0.500
CausalMutation
CLINVAR
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