ReviewNeuromuscular disorders : NMD2011
Myofibrillar myopathies.
Review in Neuromuscular disorders : NMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
84 citing papers in PubMed, 197 citations in OpenAlex.
- Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.Journal of proteomics · 2013Trial
- BAG3 gene therapy emerges as a potential treatment for myofibrillar myopathies.Molecular therapy. Advances · 2026Article
- The Role of Muscle Biopsy in the Era of Modern Genomic Medicine-A Review.Journal of clinical medicine · 2026Review
- Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2026Article
- Quantification of Exercise-Induced Sarcomeric Damage in R349P Desmin Knock-In Mice: A New Approach in Myofibrillar Myopathy Research.Neuropathology and applied neurobiology · 2025Article
- Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.International journal of molecular sciences · 2025Review
- Evaluation of aggrephagy markers in myofibrillar myopathies.Acta neuropathologica communications · 2025Article
- Emerging atypical clinicopathological manifestations of immune-mediated necrotizing myopathy (IMNM).Neuromuscular disorders : NMD · 2025Review
- Characterisation of phenotypic patterns in equine exercise-associated myopathies.Equine veterinary journal · 2025Article
- Article
- Myotilin gene duplication causing late-onset myotilinopathy.European journal of neurology · 2025Article
- A child with dilated cardiomyopathy and homozygous splice site variant inMolecular genetics and metabolism reports · 2024Article
- Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.Journal of neurology · 2024Article
- The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.Internal medicine (Tokyo, Japan) · 2023Article
- Myofibrillar myopathy hallmarks associated with ZAK deficiency.Human molecular genetics · 2023Article
- Protein Aggregates and Aggrephagy in Myopathies.International journal of molecular sciences · 2023Review
- Two Cases of Myofibrillar Myopathies: Genetic and Quality of Life Study.Muscles (Basel, Switzerland) · 2023Article
- [Neuropathology I: muscular diseases].Pathologie (Heidelberg, Germany) · 2023Review
- Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.Equine veterinary journal · 2023Article
- Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report.Frontiers in neurology · 2023Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Myofibrillar myopathies represent a group of muscular dystrophies with a similar morphologic phenotype. They are characterized by a distinct pathologic pattern of myofibrillar dissolution associated with disintegration of the Z-disk, accumulation of myofibrillar degradation products, and ectopic expression of multiple proteins and sometimes congophilic material. The clinical features of myofibrillar myopathies are more variable. These include progressive muscle weakness, that often involves or begins in distal muscles but limb-girdle or scapuloperoneal distributions can also occur. Cardiomyopathy and peripheral neuropathy are frequent associated features. EMG of the affected muscles reveals myopathic motor unit potentials and abnormal irritability often with myotonic discharges. Rarely, neurogenic motor unit potentials or slow nerve conductions are present. The generic diagnosis of myofibrillar myopathies is based on muscle biopsy findings in frozen sections. To date, all myofibrillar myopathy mutations have been traced to Z-disk-associated proteins, namely, desmin, αB-crystallin, myotilin, ZASP, filamin C and Bag3. However, in the majority of the myofibrillar myopathy patients the disease gene awaits discovery.
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What OpenQuestion holds
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.