|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
|
11592034 |
2001 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
|
12666124 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
|
12666124 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
The phenotype of limb-girdle muscular dystrophy type 2I.
|
12707425 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
LGMD2I due to FKRP mutations appears to be a relatively common cause of LGMD, with respiratory and cardiac failure as prominent complications.
|
12707425 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.
|
14523375 |
2004 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
|
14647208 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
|
14647208 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
|
14647208 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
FKRP mutations account for a broad spectrum of patients with muscular dystrophy, from a severe congenital form with or without mental retardation (MDC1C) to a much milder limb-girdle muscular dystrophy (LGMD2I).
|
14652796 |
2004 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
|
15060126 |
2004 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
|
15574464 |
2005 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
|
15833426 |
2005 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
Biomarker
|
disease |
BEFREE |
However, the marked reduction of alpha-dystroglycan glycosylation in the muscle of MDC1C and LGMD2I patients suggests a role for FKRP in dystroglycan processing.
|
16288869 |
2005 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.
|
16344347 |
2005 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
|
16368217 |
2006 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
|
16368217 |
2006 |