ReviewCurrent opinion in neurology2013
Myofibrillar myopathies: new developments.
Review in Current opinion in neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed.
- ZASP/LDB3-related atypical distal myopathy with subtle cardiac impairment unveiled after COVID-19 infection: a short report.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Article
- Mutational and clinical spectrum of myofibrillar myopathy in one center from China.Journal of neuromuscular diseases · 2024Article
- Anaesthetic management of caesarean section in a patient with myofibrillar myopathy.BMJ case reports · 2023Article
- Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.International journal of molecular sciences · 2023Article
- Deep learning-derived cardiovascular age shares a genetic basis with other cardiac phenotypes.Scientific reports · 2022Article
- Myopathy of the upper airway in snoring and obstructive sleep apnea.Laryngoscope investigative otolaryngology · 2022Article
- The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".Journal of muscle research and cell motility · 2021Article
- Structural and functional studies of D109A human αB-crystallin contributing to the development of cataract and cardiomyopathy diseases.PloS one · 2021Article
- Targeting and extending the eukaryotic druggable genome with natural products: cytoskeletal targets of natural products.Natural product reports · 2020Review
- Drosophila NUAK functions with Starvin/BAG3 in autophagic protein turnover.PLoS genetics · 2020Article
- A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report.BMC neurology · 2019Article
- Neuromuscular diseases with hypertrophic cardiomyopathy.Global cardiology science & practice · 2018Review
- Article
- Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice.The Journal of clinical investigation · 2017Article
- A novel dominant D109ABBA clinical · 2017Article
- Article
- Cardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 Signaling.The American journal of pathology · 2016Article
- Myosin heavy chain is stabilized by BCL-2 interacting cell death suppressor (BIS) in skeletal muscle.Experimental & molecular medicine · 2016Article
- BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.Journal of muscle research and cell motility · 2015Article
- Antioxidant Treatment and Induction of Autophagy Cooperate to Reduce Desmin Aggregation in a Cellular Model of Desminopathy.PloS one · 2015Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
purpose of reviewMyofibrillar myopathies (MFMs) are a heterogeneous group of skeletal and cardiac muscle diseases. In this review, we highlight recent discoveries of new genes and disease mechanisms involved in this group of disorders. RECENT
findingsThe advent of next-generation sequencing technology, laser microdissection and mass spectrometry-based proteomics has facilitated the discovery of new MFM causative genes and pathomechanisms. New mutations have also been discovered in 'older' genes, helping to find a classification niche for MFM-linked disorders showing variant phenotypes. Cell transfection experiments using primary cultured myoblasts and newer animal models provide insights into the pathogenesis of MFMs. SUMMARY: An increasing number of genes are involved in the causation of variant subtypes of MFM. The application of modern technologies in combination with classical histopathological and ultrastructural studies is helping to establish the molecular diagnosis and reach a better understanding of the pathogenic mechanisms of each MFM subtype, thus putting an emphasis on the development of specific means for prevention and therapy of these incapacitating and frequently fatal diseases.
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