ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2015
Novel mutations in LMNA A/C gene and associated phenotypes.
Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Design, synthesis and evaluation of clickable photoaffinity probes for nuclear lamins.Bioorganic & medicinal chemistry letters · 2025Article
- Perinuclear organelle trauma at the nexus of cardiomyopathy pathogenesis arising from loss of functionNucleus (Austin, Tex.) · 2025Review
- SMAP3-ID for Identification of Endogenous Protein-Protein Interactions Reveals Regulation of Mitochondrial Activity by Lamins.JACS Au · 2025Article
- Review
- The Influence of a Genetic Variant inInternational journal of molecular sciences · 2024Article
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2024Article
- Use of Farnesyl Transferase Inhibitors in an Ageing Model inJournal of developmental biology · 2023Article
- Drosophila Models Reveal Properties of Mutant Lamins That Give Rise to Distinct Diseases.Cells · 2023Article
- Characterization of cardiac involvement in children withFrontiers in cell and developmental biology · 2023Article
- Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging.Life science alliance · 2022Article
- The Role of Genetics in Risk Stratification Strategy of Dilated Cardiomyopathy.Reviews in cardiovascular medicine · 2022Review
- Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.Biomolecules · 2021Review
- International retrospective natural history study ofBrain communications · 2021Article
- Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.Journal of cardiovascular development and disease · 2020Review
- Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.Frontiers in pediatrics · 2020Article
- Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.International journal of genomics · 2020Article
- Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2019Article
- Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2016Review
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the lamin A/C gene (LMNA) have been associated with several phenotypes ranging from systemic to prevalent of muscle, heart, skin, nerve etc. More recently they have been associated with dilated cardiomyopathy (DCM) and severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC). We report four novel mutations - 3 missense and 1 deletion - in 4 unrelated patients showing different phenotypes, ranging from the early onset congenital form of laminopathy to classical LGMD phenotype, to LGMD and heart involvement. All these newly identified variants were not found in 300 ethnicallymatched control subjects. The variant c.103-105del CTG was described post-mortem in a young patient with congenital muscular dystrophy who presented at the age of 9 a first degree A-V block and subsequently several episodes of supraventricular parossystic tachycardia. Two patients presented as onset symptom lower limbs muscle weakness, and developed heart conduction defects requiring pacemaker implantation at the age of 26 and 38 years, respectively. One of them who carried the mutation c.1339G>C died at the age of 40 by intractable heart failure; the second one carrying the mutation 265C>T died at the age of 30, for a trmboembolic event. A classical LGMD phenotype without heart involvement was observed in the patient with the mutation 1579C>T, who died at the age of 68 years for respiratory insufficiency.
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