|
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 |
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 |
CLINVAR |
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
|
16216942 |
2005 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Structure of the C-terminal laminin G-like domain pair of the laminin alpha2 chain harbouring binding sites for alpha-dystroglycan and heparin.
|
10747011 |
2000 |
|
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 |
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 |
CLINVAR |
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
|
9541105 |
1998 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
The crystal structure of a laminin G-like module reveals the molecular basis of alpha-dystroglycan binding to laminins, perlecan, and agrin.
|
10619025 |
1999 |
|
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 |
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
|
18700894 |
2008 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
|
12552556 |
2003 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online.
|
10694916 |
1998 |
|
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins.
|
10022829 |
1999 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
|
11591858 |
2001 |
|
Muscular dystrophy congenital, merosin negative
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
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 |
CLINVAR |
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
|
12552556 |
2003 |