Associated Papers
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.
Chausova P et al.
International Journal of Molecular Sciences, 2025
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Quijano-Roy S et al.
Journal of Neurology, 2022
Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.
El Kadiri Y et al.
Bmc Medical Genomics, 2021
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.
Cauley ES et al.
Molecular Genetics & Genomic Medicine, 2020
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
Magri F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy.
Harandi VM et al.
Antioxidants (basel, Switzerland), 2020
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Oliveira J et al.
Human Mutation, 2018
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.
Nelson I et al.
Journal of Neuromuscular Diseases, 2015
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.
Xiong H et al.
Clinical Genetics, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
Valencia CA et al.
Plos One, 2013
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.
Siala O et al.
Genetic Testing, 2007
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
Allamand V et al.
European Journal of Human Genetics : Ejhg, 2002
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.
Di Blasi C et al.
Brain : a Journal of Neurology, 2001
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