ReviewCurrent opinion in neurology2008
Myofibrillar myopathies.
Review in Current opinion in neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 60 citations in OpenAlex.
- FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy.Journal of human genetics · 2019Trial
- High parasternal intercostal muscle thickening associated with diaphragm dysfunction in myofibrillar myopathy: A case study.Respiratory medicine case reports · 2023Article
- Cardiac arrhythmias in primary hypokalemic periodic paralysis: Case report and literature review.HeartRhythm case reports · 2022Article
- Article
- Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy.Genes & diseases · 2018Article
- The role of ubiquitin ligases in cardiac disease.Journal of molecular and cellular cardiology · 2014Review
- Filamin C-related myopathies: pathology and mechanisms.Acta neuropathologica · 2013Article
- Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.Brain : a journal of neurology · 2012Article
- Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.European neurology · 2012Article
- AAV6-mediated systemic shRNA delivery reverses disease in a mouse model of facioscapulohumeral muscular dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2011Article
- BAG3 directly interacts with mutated alphaB-crystallin to suppress its aggregation and toxicity.PloS one · 2011Article
- Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein.Differentiation; research in biological diversity · 2011Article
- BAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stress.Circulation research · 2010Article
- Neuromuscular imaging in inherited muscle diseases.European radiology · 2010Review
- Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.Brain : a journal of neurology · 2009Article
- Interplay between the ubiquitin-proteasome system and autophagy in proteinopathies.International journal of physiology, pathophysiology and pharmacology · 2009Article
- Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.Brain : a journal of neurology · 2009Article
- Maintenance of muscle mass, fiber size, and contractile function in mice lacking the Z-disc protein myotilin.Upsala journal of medical sciences · 2009Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
purpose of reviewThe aim of this communication is to provide an up-to-date overview of myofibrillar myopathies. RECENT
findingsThe most important recent advance in the myofibrillar myopathies has been the discovery that mutations in Z band alternatively spliced PDZ-containing protein and filamin C, as well as in desmin, alphaB-crystallin and myotilin, result in similar pathologic alterations in skeletal muscle that are typical of myofibrillar myopathy. Despite the increasing genetic heterogeneity, the clinical and morphologic phenotypes are remarkably homogeneous. The typical clinical manifestation is slowly progressive proximal, distal or both proximal and distal limb muscle weakness. Cardiomyopathy can be associated and is sometimes the presenting finding. Peripheral neuropathy also occurs in some patients. In every myofibrillar myopathy, there is abnormal accumulation of an array of proteins at ectopic sites as well as accumulation of degraded myofibrillar proteins forming large aggregates. The key issue now is to analyze the molecular mechanisms underlying the cascade of events that destroy the myofibrillar architecture and trigger the aberrant expression of multiple proteins. SUMMARY: Several disease genes have recently been recognized in myofibrillar myopathies. So far, the disease proteins identified are components of or chaperone for the Z-disk. In each case, the molecular defect leads to a stereotyped cascade of structural events in the muscle fiber.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.