×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
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
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
Biomarker
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
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
Biomarker
BEFREE
Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy .
29763467
2018
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
BEFREE
Recessive mutations in LAMA2 commonly cause congenital muscular dystrophy (MDC1A ) and, rarely, limb girdle muscular dystrophy (LGMD).
27932089
2017
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
CLINVAR
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
28688748
2017
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
27708273
2017
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
UNIPROT
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
27234031
2017
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.
28182637
2017
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
27159402
2016
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
CLINVAR
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.
27858741
2015
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
CLINVAR
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.
24611677
2015
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
UNIPROT
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.
24611677
2015
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
Biomarker
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
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.
27858741
2015
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.
24611677
2015
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
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
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
CLINVAR
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
25663498
2015
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
CLINVAR
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.
24225367
2014
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
CLINVAR
Atypical phenotype in two patients with LAMA2 mutations.
24534542
2014
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.
25332755
2014
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.
25124546
2014
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
Biomarker
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
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
CausalMutation
CLINVAR
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.
24225367
2014