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