|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
|
18639457 |
2008 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
|
19155270 |
2009 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
|
25987458 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
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 |
|
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 |
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 |
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
|
15060126 |
2004 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
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 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
|
23800702 |
2013 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
|
16634037 |
2006 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.
|
18671187 |
2008 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis and etiology of congenital muscular dystrophy.
|
18160674 |
2008 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
|
23800702 |
2013 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
|
23894383 |
2013 |
|
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
|
19299310 |
2009 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
|
16476814 |
2006 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.
|
27439679 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.
|
28629604 |
2017 |
|
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 |