ArticleIranian biomedical journal2018
Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy
Article in Iranian biomedical journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- Expanding the phenotypic spectrum of LAMA2-related disorders: Axonal neuropathy in the absence of muscular dystrophy.Journal of human genetics · 2026Article
- A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy.BMC medical genomics · 2025Article
- Article
- Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis.Genes · 2023Article
- Case report: Novel frameshift mutation inFrontiers in genetics · 2023Article
- Genome-Wide Identification of RNA Editing Sites Affecting Muscle Development in Yak.Frontiers in veterinary science · 2022Article
- Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.Journal of clinical laboratory analysis · 2021Article
- Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.BMC medical genomics · 2021Article
- Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family.Diagnostics (Basel, Switzerland) · 2020Article
- Fat mass- and obesity-associated (FTO) gene promoted myoblast differentiation through the focal adhesion pathway in chicken.3 Biotech · 2020Article
- [Clinical features and LAMA2 mutations of patients with congenital muscular dystrophy type 1A: a case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare autosomal recessive genetic disease occurred due to mutations in the LAMA2 gene. This study investigated the molecular genetics of three Iranian MDC1A patients who manifested hypotonia, muscle weakness at birth, elevated levels of creatine kinase, and normal magnetic resonance imaging before the age of six months Methods: Peripheral blood samples were collected from three unrelated patients and their families after obtaining informed written consents. Genomic DNA was extracted and sequenced using next-generation sequencing, followed by Sanger confirmation. Results: Sequencing results revealed a known missense mutation, c.8665G>A, and two novel heterozygous sequencing variants affecting splicing, c.397-4_c.478del and c.7452-1G>A, in the LAMA2 gene. Reverse transcriptase-PCR analysis showed that a new intronic variant, c.7452-1G>A, produced aberrant splicing pattern in the patient. Conclusion: This study expands the mutation spectrum of LAMA2 and assists in the diagnosis, genetic counseling, and prenatal diagnosis of the affected families.
Indexed as
Identifiers
29707938PMC6305815W2895960773What OpenQuestion holds
Registered trials
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