×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
Biomarker
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
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
MDC1A is caused by mutation of the laminin α-2 gene (LAMA2 ), localized to chromosome 6q22-23.24223650 2013
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
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
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
23326386 2013
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GermlineCausalMutation
ORPHANET
MDC1A is caused by mutation of the laminin α-2 gene (LAMA2 ), localized to chromosome 6q22-23.24223650 2013
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
BEFREE
Merosin deficient congenital muscular dystrophy (MDC1A ) is a form of CMD caused by a defect in the laminin-α2 gene (LAMA2 ).22952766 2012
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
Biomarker
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
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
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
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
CLINVAR
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
20207543 2010
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
20207543 2010
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
BEFREE
Merosin deficient congenital muscular dystrophy 1A (MDC1A ) results from mutations in the LAMA2 gene.20207543 2010
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
BEFREE
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.18406646 2009
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
18700894 2008
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
CLINVAR
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
18700894 2008
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
Biomarker
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
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
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
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
CLINVAR
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
16216942 2005
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
Biomarker
MGD
Synaptic plasticity in the dy2J mouse model of laminin alpha2-deficient congenital muscular dystrophy.
15823249 2005
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
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
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
16216942 2005
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
Biomarker
MGD
Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene.
12609503 2003
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
UNIPROT
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
12552556 2003
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
CLINVAR
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
12552556 2003
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
Biomarker
GENOMICS_ENGLAND
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
11591858 2001
×
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.
11287370 2001