Associated Papers
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.
Khalilian S et al.
Human Genomics, 2025
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.
Chausova P et al.
International Journal of Molecular Sciences, 2025
LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study.
Zha J et al.
Frontiers in Neurology, 2025
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns.
Nmer S et al.
Cureus, 2024
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.
Enzmann C et al.
Journal of Neuromuscular Diseases, 2024
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
Camelo CG et al.
Journal of Neuromuscular Diseases, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
A rare case of arrhythmogenic right ventricular cardiomyopathy associated with LAMA2 mutation: A case report and literature review.
Wang Y et al.
Frontiers in Medicine, 2022
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.
Tan D et al.
Orphanet Journal of Rare Diseases, 2021
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
[Clinical features and LAMA2 mutations of patients with congenital muscular dystrophy type 1A: a case report and literature review].
Guo L et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Jiao Q et al.
Clinical Genetics, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy.
Ge L et al.
Scientific Reports, 2018
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
[Duchenne and Becker muscular dystrophy complicated with epilepsy].
Cuijie W et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.
Xiong H et al.
Clinical Genetics, 2015
Merosin-deficient congenital muscular dystrophy type 1A: A case report.
He Z et al.
Experimental and Therapeutic Medicine, 2013
A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy.
Pegoraro E et al.
Neurology, 2000