|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.
|
18671187 |
2008 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy.
|
18060779 |
2008 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Allelic mutations in each of these genes can result in a wide spectrum of clinical conditions, ranging from severe congenital onset with associated structural brain malformations (Walker Warburg syndrome; muscle-eye-brain disease; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D) to a relatively milder congenital variant with no brain involvement (congenital muscular dystrophy type 1C), and to limb-girdle muscular dystrophy (LGMD) type 2 variants with onset in childhood or adult life (LGMD2I, LGMD2L, and LGMD2N).
|
19019316 |
2008 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in POMT1, POMT2, fukutin, FKRP and LARGE genes are found in 20-30% of children with WWS.
|
18640039 |
2008 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
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 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fukutin-related protein (FKRP) gene cause limb-girdle muscular dystrophy type 2I (LGMD2I) as well as other severe muscle disorders, including Walker-Warburg syndrome, muscle-eye-brain disease, and congenital muscular dystrophy type 1C.
|
19900540 |
2010 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
|
20236121 |
2010 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Co-injection of the human FKRP mRNA containing causative mutations found in human patients of WWS, MDC1C and LGMD2I could not restore their phenotypes significantly.
|
19955119 |
2010 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
|
20236121 |
2010 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Zebrafish models for human FKRP muscular dystrophies.
|
19955119 |
2010 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Abnormal glycosylation of α-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes.
|
20961758 |
2011 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.
|
21220724 |
2011 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
|
22981120 |
2012 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
|
22908982 |
2012 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
FKRP mutations have been associated with a wide spectrum of clinical severity from severe Walker-Warburg syndrome and muscle-eye-brain disease with brain and eye defects to mild limb-girdle muscular dystrophy 2I with myopathy only.
|
23591631 |
2013 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
|
23800702 |
2013 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
|
23894383 |
2013 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
|
23591631 |
2013 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.
|
23576288 |
2013 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe eye and brain abnormalities in a 16 month-old-boy with Walker-Warburg syndrome phenotype resulting from a novel fukutin-related protein gene mutation in exon 4 and compare these with other reported patients with fukutin-related protein gene mutation.
|
24139536 |
2013 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.
|
24447024 |
2014 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.
|
23420653 |
2014 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
|
26436962 |
2015 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.
|
27439679 |
2016 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.
|
26320847 |
2016 |