|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in LAMA2 commonly cause congenital muscular dystrophy (MDC1A) and, rarely, limb girdle muscular dystrophy (LGMD).
|
27932089 |
2017 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, these strategies have also been explored in many other genetic disorders, including dysferlin-deficient muscular dystrophy (e.g., Miyoshi myopathy; MM, limb-girdle muscular dystrophy type 2B; LGMD2B, and distal myopathy with anterior tibial onset; DMAT), laminin α2 chain (merosin)-deficient congenital muscular dystrophy (MDC1A), sarcoglycanopathy (e.g., limb-girdle muscular dystrophy type 2C; LGMD2C), and Fukuyama congenital muscular dystrophy (FCMD).
|
30171536 |
2018 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study provides valuable methods for determining the molecular defects in LAMA2 causing merosin deficient congenital muscular dystrophy.
|
9541105 |
1998 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Merosin-deficient congenital muscular dystrophy (CMD) is caused by mutations in the laminin alpha 2 chain gene.
|
9027848 |
1996 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
Biomarker
|
disease |
BEFREE |
Inflammation and fibrosis are well-defined mechanisms involved in the pathogenesis of the incurable Laminin α2-deficient congenital muscular dystrophy (MDC1A), while apoptosis mechanism is barely discussed.
|
25766329 |
2015 |
|
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 |
Biomarker
|
disease |
BEFREE |
Next, we tested the therapeutic potential of PMO in laminin-alpha2 (laminin-α2) chain-null dy <sup>3K</sup>/dy <sup>3K</sup> mice, a model of merosin-deficient congenital muscular dystrophy 1A (MDC1A) with active muscle regeneration.
|
30171567 |
2018 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
Biomarker
|
disease |
BEFREE |
Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy.
|
29763467 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.
|
11053680 |
2000 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
Biomarker
|
disease |
BEFREE |
Approximately, 15.12 Mb upstream in 6q22-q23 is located LAMA2, the gene responsible of merosin-deficient congenital muscular dystrophy type 1A (MDC1A).
|
25124546 |
2014 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.
|
9185182 |
1997 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
|
7550355 |
1995 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
These data confirm that mutations of the LAMA2 gene that do not completely disrupt the production of the protein can give rise to phenotypes considerably milder than classical merosin-deficient congenital muscular dystrophy.
|
9829280 |
1998 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel LAMA2 homozygous sequence variant in a Samoan patient with MDC1A and confirm its pathogenic effect with merosin immunohistochemistry on skeletal muscle biopsy.
|
26249246 |
2015 |
|
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 |
BEFREE |
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.
|
9185180 |
1997 |
|
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
|
0.500 |
Biomarker
|
disease |
BEFREE |
We suggest that expression profiling will provide important information to improve our understanding of the molecular basis of laminin alpha-2 positive MDC.
|
17010933 |
2006 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients with a partial reduction of merosin due to mutations in the laminin-α2 chain gene usually present with a mild form of congenital muscular dystrophy or a limb-girdle-like muscular dystrophy.
|
22006699 |
2011 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.
|
11287370 |
2001 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.
|
10726842 |
1998 |