Associated Papers
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
40494860 (PubMed )
Supplement: 41390_2025_4160_MOESM3_ESM.pdf
A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy.
Nejati P et al.
Bmc Medical Genomics, 2025
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.
Chausova P et al.
International Journal of Molecular Sciences, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Camelo CG et al.
Clinical Genetics, 2024
Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns.
Nmer S et al.
Cureus, 2024
Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.
Kellermayer D et al.
The Journal of Clinical Investigation, 2024
37962957 (PubMed )
Supplement: jci-134-169753-s015.xlsx › Munka1
Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients.
Huang X et al.
Frontiers in Neurology, 2023
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
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
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
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.
Nishikawa A et al.
Journal of Medical Genetics, 2017
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.
Xiong H et al.
Clinical Genetics, 2015
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