ArticleEuropean journal of human genetics : EJHG2009
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 83 citations in OpenAlex.
- Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.Journal of proteomics · 2013Trial
- Multi-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study.Journal of cachexia, sarcopenia and muscle · 2026Article
- Filamin C dimerisation is regulated by HSPB7.Nature communications · 2025Article
- Mutations in Filamin C Associated with Both Alleles Do Not Affect the Functioning of Mice Cardiac Muscles.International journal of molecular sciences · 2025Article
- Reverse Mutations in Pigmentation Induced by Sodium Azide in the IR64 Rice Variety.Current issues in molecular biology · 2024Article
- Article
- Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.Orphanet journal of rare diseases · 2022Article
- FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.Neurology. Genetics · 2021Article
- The Postmortem Interpretation of Cardiac Genetic Variants of Unknown Significance in Sudden Death in the Young: A Case Report and Review of the Literature.Academic forensic pathology · 2020Article
- Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.Acta neuropathologica communications · 2020Article
- A mutation update for the FLNC gene in myopathies and cardiomyopathies.Human mutation · 2020Review
- Structure and Function of Filamin C in the Muscle Z-Disc.International journal of molecular sciences · 2020Review
- Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.Frontiers in neurology · 2020Article
- Genetic Animal Models for Arrhythmogenic Cardiomyopathy.Frontiers in physiology · 2020Review
- Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy.Genes & diseases · 2018Article
- Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy.Molecular genetics & genomic medicine · 2018Article
- Myofibrillar myopathy in the genomic context.Journal of applied genetics · 2018Review
- A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.BMC neurology · 2018Article
- Novel Mutation inCirculation. Cardiovascular genetics · 2017Article
- Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC.Human genetics · 2017Article
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Authors and funding
21 authors at 14 institutions in 6 countries.
Funding
Abstract
Myofibrillar myopathies (MFMs) are an expanding and increasingly recognized group of neuromuscular disorders caused by mutations in DES, CRYAB, MYOT, and ZASP. The latest gene to be associated with MFM was FLNC; a p.W2710X mutation in the 24th immunoglobulin-like repeat of filamin C was shown to be the cause of a distinct type of MFM in several German families. We studied an International cohort of 46 patients from 39 families with clinically and myopathologically confirmed MFM, in which DES, CRYAB, MYOT, and ZASP mutations have been excluded. In patients from an unrelated family a 12-nucleotide deletion (c.2997_3008del) in FLNC resulting in a predicted in-frame four-residue deletion (p.Val930_Thr933del) in the seventh repeat of filamin C was identified. Both affected family members, mother and daughter, but not unrelated control individuals, carried the p.Val930_Thr933del mutation. The mutation is transcribed and, based on myopathological features and immunoblot analysis, it leads to an accumulation of dysfunctional filamin C in the myocytes. The study results suggest that the novel p.Val930_Thr933del mutation in filamin C is the cause of MFM but also indicate that filamin C mutations are a comparatively rare cause of MFM.
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