|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
|
17030669 |
2006 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
|
22323514 |
2012 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel retinal findings in an infant with muscle-eye-brain disease.
|
25390965 |
2012 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
|
23689641 |
2013 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
|
22554691 |
2012 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
|
15466003 |
2004 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
|
17906881 |
2007 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.
|
24731844 |
2014 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Molecular heterogeneity in fetal forms of type II lissencephaly.
|
17559086 |
2007 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
|
28424332 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
|
19067344 |
2008 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
POMGnT1 gene alterations in a family with neurological abnormalities.
|
15236414 |
2004 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
|
23326386 |
2013 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
|
18330676 |
2008 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
|
17030669 |
2006 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
|
19299310 |
2009 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.
|
19679478 |
2009 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
|
19299310 |
2009 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
|
21361872 |
2011 |
|
Walker-Warburg congenital muscular dystrophy
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
These findings emphasize the importance of considering MEB and searching for POMGnT1 mutations in WWS or other congenital muscular dystrophy patients worldwide.
|
12588800 |
2003 |
|
Walker-Warburg congenital muscular dystrophy
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Walker-Warburg Syndrome (WWS) and muscle-eye-brain disease (MEB) are caused by mutations in two genes involved in O-mannosylation, POMT1 and POMGnT1, respectively.
|
12925572 |
2003 |
|
Muscle eye brain disease
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
|
17030669 |
2006 |
|
Muscle eye brain disease
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
These results clearly demonstrate that MEB is inherited as a loss-of-function of POMGnT1.
|
12788071 |
2003 |
|
Muscle eye brain disease
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan.
|
27493216 |
2016 |
|
Muscle eye brain disease
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
|
11709191 |
2001 |