|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
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 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
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 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome, each associated with eye abnormalities and neuronal migration defects, result from mutations in fukutin, POMGnT1 and POMT1, respectively, while mutations in the fukutin-related protein (FKRP) gene cause congenital muscular dystrophy 1C, typically lacking brain involvement.
|
12966029 |
2003 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The phenotype of limb-girdle muscular dystrophy type 2I.
|
12707425 |
2003 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
|
14647208 |
2003 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
|
12666124 |
2003 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
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 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
|
14742276 |
2004 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
|
15121789 |
2004 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
|
15060126 |
2004 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
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 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
|
15833426 |
2005 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
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 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance.
|
16786213 |
2006 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
|
16368217 |
2006 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
|
16634037 |
2006 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
|
16476814 |
2006 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.
|
17113772 |
2006 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.
|
17336067 |
2007 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.
|
17055682 |
2007 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
So far at least four genes (POMT1, POMT2, Fukutin, and FKRP gene) have been implicated in WWS, accounting for about 30% of all cases.
|
17161965 |
2007 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.
|
17446099 |
2007 |
|
Walker-Warburg congenital muscular dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
|
18639457 |
2008 |