|
Muscular dystrophy congenital, merosin negative
|
1.000 |
Biomarker
|
disease |
BEFREE |
Next, we tested the therapeutic potential of PMO for laminin-α2 chain-null dy(3K)/dy(3K) mice: a model of merosin-deficient congenital muscular dystrophy (MDC1A) with active muscle regeneration.
|
23882132 |
2013 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), localized to chromosome 6q22-23.
|
24223650 |
2013 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In our previous work, genetic interventions in the Lama2(Dy-w) mouse model for MDC1A demonstrated that limited regeneration and uncontrolled apoptosis are important drivers of this disease.
|
23773998 |
2013 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
|
23326386 |
2013 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), localized to chromosome 6q22-23.
|
24223650 |
2013 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Merosin deficient congenital muscular dystrophy (MDC1A) is a form of CMD caused by a defect in the laminin-α2 gene (LAMA2).
|
22952766 |
2012 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
Biomarker
|
disease |
MGD |
Proinflammatory signals and the loss of lymphatic vessel hyaluronan receptor-1 (LYVE-1) in the early pathogenesis of laminin alpha2-deficient skeletal muscle.
|
20876525 |
2011 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LAMA2 gene result in a complete loss of merosin and underlie a severe congenital type of muscular dystrophy (MDC1A).We investigated the clinical, genetic, and histological basis of late-onset muscular dystrophy in one family.
|
21922472 |
2011 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
|
20207543 |
2010 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
|
20207543 |
2010 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Merosin deficient congenital muscular dystrophy 1A (MDC1A) results from mutations in the LAMA2 gene.
|
20207543 |
2010 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.
|
18406646 |
2009 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
|
18700894 |
2008 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
|
18700894 |
2008 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
Biomarker
|
disease |
MGD |
Mutations in the gene encoding the basal lamina (BL) component laminin alpha2 (LAMA2) cause merosin-deficient congenital muscular dystrophy 1A (MDC1A), a complex disorder that includes hypomyelination and myodegeneration.
|
18430779 |
2008 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.
|
17949279 |
2007 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
|
16216942 |
2005 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
Biomarker
|
disease |
MGD |
Synaptic plasticity in the dy2J mouse model of laminin alpha2-deficient congenital muscular dystrophy.
|
15823249 |
2005 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In Duchenne muscular dystrophy (DMD) and LAMA2-mutated congenital muscular dystrophy (MDC1A) we also quantitated transcript levels of the profibrotic cytokine TGF-beta1.
|
16183658 |
2005 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
|
16216942 |
2005 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
Biomarker
|
disease |
MGD |
Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene.
|
12609503 |
2003 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
|
12552556 |
2003 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
|
12552556 |
2003 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
|
11591858 |
2001 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.
|
11287370 |
2001 |