|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
|
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 |
LHGDN |
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
|
11938437 |
2002 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
|
12552556 |
2003 |
|
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
LHGDN |
Laminin alpha2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice.
|
12609502 |
2003 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients.
|
12467726 |
2003 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
|
15452315 |
2004 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
LHGDN |
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
|
16084089 |
2005 |
|
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 |
Biomarker
|
disease |
LHGDN |
Laminin alpha1 chain mediated reduction of laminin alpha2 chain deficient muscular dystrophy involves integrin alpha7beta1 and dystroglycan.
|
16504180 |
2006 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
CTD_human |
Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes.
|
18074402 |
2008 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
|
18700894 |
2008 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy.
|
18053718 |
2008 |
|
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 |
Biomarker
|
disease |
BEFREE |
Blocking apoptosis ameliorates muscle disease in some mouse models of muscular dystrophy such as laminin α-2-deficient mice, but not in others such as dystrophin-deficient (mdx) mice.
|
21199860 |
2011 |
|
Muscular Dystrophy
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This laminin-α2 deficient mutant fish represents a novel disease model to develop therapies for modulating splicing defects in congenital muscular dystrophies and to restore the muscle function in human patients with CMD.
|
22952766 |
2012 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
CTD_human |
The AChE membrane-binding tail PRiMA is down-regulated in muscle and nerve of mice with muscular dystrophy by merosin deficiency.
|
22906800 |
2013 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.
|
24225367 |
2014 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
We conducted a two-year pilot study to evaluate feasibility, reliability, and validity of various outcome measures, particularly the Motor Function Measure 32, in 33 subjects with COL6-RD and LAMA2-RD.
|
25307854 |
2015 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LAMA2 gene cause laminin α‑2 (merosin)‑deficient congenital muscular dystrophies, which are autosomal recessive muscle disorders.
|
25544356 |
2015 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature.
|
25663498 |
2015 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Laminin-α2 deficient congenital muscular dystrophy (CMD) is an autosomal recessive disorder characterized by severe muscular dystrophy, which is typically associated with abnormal white matter.
|
24611677 |
2015 |