Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.
Chausova P et al.
International Journal of Molecular Sciences, 2025
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T et al.
Neurogenetics, 2024
Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report.
Yuan J et al.
World Journal of Clinical Cases, 2024
Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients.
Huang X et al.
Frontiers in Neurology, 2023
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
NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.
Kimura S et al.
Cancer Science, 2019
30387229 (PubMed )
Supplement: CAS-110-784-s012.xlsx › Sup3_Mutation
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
[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
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
Valencia CA et al.
Plos One, 2013
Merosin-negative congenital muscular dystrophy: Report of five cases.
Incecik F et al.
Journal of Pediatric Neurosciences, 0
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