ArticleOrphanet journal of rare diseases2021
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 39 citations in OpenAlex.
- Dual AAV gene therapy using laminin-linking proteins ameliorates muscle and nerve defects in LAMA2-related muscular dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?Journal of neuromuscular diseases · 2026Review
- Article
- Drivers of systemic male-female allele frequency divergence in humans.bioRxiv : the preprint server for biology · 2026Article
- Loss of cell-autonomously secreted laminin-α2 drives muscle stem cell dysfunction in LAMA2-related muscular dystrophy.Nature communications · 2025Article
- Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2-deficient muscle.JCI insight · 2025Article
- A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy.BMC medical genomics · 2025Article
- A novel mouse model foreLife · 2025Article
- A Spectrum of Pathogenic Variants in theInternational journal of molecular sciences · 2025Article
- Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants.SAGE open medical case reports · 2025Article
- An international retrospective early natural history study of LAMA2-related dystrophies.Journal of neuromuscular diseases · 2024Article
- DNA Methylation Carries Signatures of Sublethal Effects Under Thermal Stress in Loggerhead Sea Turtles.Evolutionary applications · 2024Article
- Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice.Scientific reports · 2024Article
- Article
- A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.Journal of neuromuscular diseases · 2024Article
- Dual transgene amelioration of Lama2-null muscular dystrophy.Matrix biology : journal of the International Society for Matrix Biology · 2023Article
- Physical Therapy-Based Early Intervention in Limb-Girdle Muscular Dystrophy.Indian journal of pediatrics · 2023Article
- Novel compound heterozygous mutations of LAMA2-limb-girdle muscular dystrophy: A case report and literature review.Frontiers in neurology · 2023Article
- Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations ofFrontiers in pediatrics · 2023Article
- Merosin-deficient congenital muscular dystrophy type 1a: detection ofFrontiers in genetics · 2023Article
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Authors and funding
30 authors at 11 institutions in 2 countries.
Funding
Abstract
backgroundLAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2-CMD) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by LAMA2 pathogenic variants. We aimed to describe the natural history and establish genotype-phenotype correlations in a large cohort of Chinese patients with LAMA2-related muscular dystrophy.
methodsClinical and genetic data of LAMA2-related muscular dystrophy patients enrolled from ten research centers between January 2003 and March 2021 were collected and analyzed.
resultsOne hundred and thirty patients (116 LAMA2-CMD and 14 LGMDR23) were included. LAMA2-CMD group had earlier onset than LGMDR23 group. Head control, independent sitting and ambulation were achieved in 76.3%, 92.6% and 18.4% of LAMA2-CMD patients at median ages of 6.0 months (range 2.0-36.0 months), 11.0 months (range 6.0-36.0 months), and 27.0 months (range 18.0-84.0 months), respectively. All LGMDR23 patients achieved independent ambulation at median age of 18.0 months (range 13.0-20.0 months). Motor regression in LAMA2-CMD mainly occurred concurrently with rapid progression of contractures during 6-9 years old. Twenty-four LAMA2-related muscular dystrophy patients died, mostly due to severe pneumonia. Seizures occurred in 35.7% of LGMDR23 and 9.5% of LAMA2-CMD patients. Forty-six novel and 97 known LAMA2 disease-causing variants were identified. The top three high-frequency disease-causing variants in Han Chinese patients were c.7147C > T (p.R2383*), exon 4 deletion, and c.5156_5159del (p.K1719Rfs*5). In LAMA2-CMD, splicing variants tended to be associated with a relatively mild phenotype. Nonsense variants were more frequent in LAMA2-CMD (56.9%, 66/116) than in LGMDR23 (21.4%, 3/14), while missense disease-causing variants were more frequent in LGMDR23 (71.4%, 10/14) than in LAMA2-CMD (12.9%, 15/116). Copy number variations were identified in 26.4% of survivors and 50.0% of nonsurvivors, suggesting that copy number variations were associated with lower rate of survival (p = 0.029).
conclusionsThis study provides better understandings of natural history and genotype-phenotype correlations in LAMA2-related muscular dystrophy, and supports therapeutic targets for future researches.
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