LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE <b>Results:</b> Totally, 62 mutations of <i>DMD</i> were found in 62 probands with DMD/BMD, and two compound heterozygous mutations in <i>LAMA2</i> were identified in two probands with MDC1A (a type of congenital MD), indicating that the diagnostic yield was 91.4% by MLPA plus NGS for MD diagnosis in this cohort. 31404137 2019
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE Several mutations in the LN domains cause LAMA2-deficient muscular dystrophy and LAMB2-deficient Pierson syndrome. 29408412 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Interestingly, one of the remaining tumors has a deletion in LAMA2, bringing the number of ONBs with deletions of genes involved in the development of muscular dystrophies to 13 or 93%. 30575736 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin. 29766020 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE In this study, we applied next-generation sequencing-based copy number variation profiling in 114 individuals clinically diagnosed with laminin α2-related muscular dystrophy, including 96 who harboured LAMA2 mutations and 34 who harboured intragenic rearrangements. 30301903 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE Muscular dystrophies, including laminin α2 chain-deficient muscular dystrophy (LAMA2-CMD), are associated with immense personal, social and economic burdens. 29544677 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE In this review, we summarize the clinical features of two of the most common congenital muscular dystrophies, COL6-related dystrophies and LAMA2-related dystrophies, which are caused by mutations in muscle ECM and basement membrane proteins. 29933045 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). 28087121 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Mice with a homozygous mutation in Lama2 (dy2J mice) express a nonpolymerizing form of laminin-211 (Lm211) and are a model for ambulatory-type Lmα2-deficient muscular dystrophy. 28218617 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE <i>L</i><i>AMA2</i>-related muscular dystrophy (<i>LAMA2</i> MD or MDC1A) is the most frequent form of early-onset, fatal congenital muscular dystrophies. 28659438 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE Absence of microRNA-21 does not reduce muscular dystrophy in mouse models of LAMA2-CMD. 28771630 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Congenital muscular dystrophy type 1A (MDC1A) is a devastating form of muscular dystrophy caused by laminin α2 chain-deficiency. 28281577 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy. 26304763 2016
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease LHGDN LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 18700894 2008