|
MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.
|
17336067 |
2007 |
|
MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Consensus statement on standard of care for congenital muscular dystrophies.
|
21078917 |
2010 |
|
MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
|
12654965 |
2003 |
|
Congenital muscular dystrophy (disorder)
|
|
0.020 |
GeneticVariation
|
BEFREE |
Here we report that ribitol, a pentose alcohol with previously unknown function in mammalian cells, partially restores functional O-mannosylation of α-DG (F-α-DG) in the dystroglycanopathy model containing a P448L mutation in fukutin-related protein (FKRP) gene, which is clinically associated with severe congenital muscular dystrophy.
|
30150693 |
2018 |
|
MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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, CONGENITAL, 1C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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, CONGENITAL, 1C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
|
12666124 |
2003 |
|
Muscular Dystrophies, Limb-Girdle
|
|
0.010 |
GeneticVariation
|
BEFREE |
The fukutin-related protein P448L mutant mouse replicates many pathologies common to limb girdle muscular dystrophy 2i (LGMD2i) and is a potentially strong candidate for relevant drug screening studies.
|
28663375 |
2017 |
|
Congenital muscular dystrophy (disorder)
|
|
0.020 |
GeneticVariation
|
BEFREE |
Using AAV9-mediated overexpression of mutant human FKRP bearing the P448L mutation (mhFKRP-P448L) associated with severe congenital muscular dystrophy (CMD), we demonstrate the restoration of functional glycosylation of α-DG and reduction in markers of disease progression.
|
29858056 |
2018 |
|
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using AAV9-mediated overexpression of mutant human FKRP bearing the P448L mutation (mhFKRP-P448L) associated with severe congenital muscular dystrophy (CMD), we demonstrate the restoration of functional glycosylation of α-DG and reduction in markers of disease progression.
|
29858056 |
2018 |
|
Coronary Microvascular Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using AAV9-mediated overexpression of mutant human FKRP bearing the P448L mutation (mhFKRP-P448L) associated with severe congenital muscular dystrophy (CMD), we demonstrate the restoration of functional glycosylation of α-DG and reduction in markers of disease progression.
|
29858056 |
2018 |
|
CAMPOMELIC DYSPLASIA
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using AAV9-mediated overexpression of mutant human FKRP bearing the P448L mutation (mhFKRP-P448L) associated with severe congenital muscular dystrophy (CMD), we demonstrate the restoration of functional glycosylation of α-DG and reduction in markers of disease progression.
|
29858056 |
2018 |