|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
|
28454995 |
2017 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.
|
27421908 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.
|
26320847 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
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 |
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 |
CLINVAR |
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
|
26436962 |
2015 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.
|
23420653 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
|
23591631 |
2013 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.
|
24139536 |
2013 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.
|
20961759 |
2011 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
Biomarker
|
disease |
MGD |
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
|
20675713 |
2010 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Zebrafish models for human FKRP muscular dystrophies.
|
19955119 |
2010 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
|
20623375 |
2010 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Mutations alter secretion of fukutin-related protein.
|
19900540 |
2010 |
|
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 |
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 |
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
|
18691338 |
2009 |