Condition: Muscular dystrophy congenital, merosin negative
rs1018100729 in
LAMA2 gene and
Muscular dystrophy congenital, merosin negative
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 16216942 2005 LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
PMID 24611677 2015 Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.
PMID 25663498 2015 LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
PMID 7550355 1995 Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.
PMID 11591858 2001 Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
PMID 12552556 2003 Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
PMID 27234031 2017 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
PMID 20207543 2010 Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
PMID 27159402 2016 Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
PMID 24223650 2013 Merosin-deficient congenital muscular dystrophy type 1A: A case report.
PMID 10694916 1998 Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online.
PMID 24225367 2014 High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.
PMID 18700894 2008 LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
PMID 25124546 2014 Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.
PMID 9674786 1998 Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.
PMID 24534542 2014 Atypical phenotype in two patients with LAMA2 mutations.
PMID 27858741 2015 Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.
PMID 9541105 1998 PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
PMID 17949279 2007 Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.
PMID 9185182 1997 Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.
PMID 25332755 2014 Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.
PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
PMID 10611118 2000 Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.
PMID 28688748 2017 Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
PMID 28182637 2017 Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.
PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
PMID 11287370 2001 Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.
rs749797580 in
LAMA2;LOC102723409 gene and
Muscular dystrophy congenital, merosin negative
PMID 10619025 1999 The crystal structure of a laminin G-like module reveals the molecular basis of alpha-dystroglycan binding to laminins, perlecan, and agrin.
PMID 10747011 2000 Structure of the C-terminal laminin G-like domain pair of the laminin alpha2 chain harbouring binding sites for alpha-dystroglycan and heparin.
PMID 10022829 1999 Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins.
PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.